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  1. Whether high sensitivity C-reactive protein (hs-CRP) has a causal effect on coronary heart disease (CHD) is unclear. This study investigated the causal effect of hs-CRP on CHD risk using Mendelian Randomizatio...

    Authors: Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen and Song Yang

    Citation: BMC Medical Genetics 2019 20:170

    Content type: Research article

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  2. Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at lea...

    Authors: Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan and Ya-Li Li

    Citation: BMC Medical Genetics 2019 20:169

    Content type: Case report

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  3. Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, i...

    Authors: Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi and Lihua Wang

    Citation: BMC Medical Genetics 2019 20:168

    Content type: Research article

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  4. Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondr...

    Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi and Seyed Alireza Dastgheib

    Citation: BMC Medical Genetics 2019 20:167

    Content type: Case report

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  5. Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle pro...

    Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang

    Citation: BMC Medical Genetics 2019 20:166

    Content type: Research article

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    The Correction to this article has been published in BMC Medical Genetics 2019 20:195

  6. Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly pro...

    Authors: Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen and Linsheng Zhao

    Citation: BMC Medical Genetics 2019 20:165

    Content type: Case report

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  7. Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene produc...

    Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury

    Citation: BMC Medical Genetics 2019 20:164

    Content type: Research article

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  11. (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 ...

    Authors: Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile and Fernando Ferreira Costa

    Citation: BMC Medical Genetics 2019 20:160

    Content type: Research article

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  12. Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL ...

    Authors: Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi and Touhami Mahjoub

    Citation: BMC Medical Genetics 2019 20:159

    Content type: Research article

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  13. Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not ...

    Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia

    Citation: BMC Medical Genetics 2019 20:158

    Content type: Research article

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  14. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease...

    Authors: Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen

    Citation: BMC Medical Genetics 2019 20:157

    Content type: Case report

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  15. Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and m...

    Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon and Jisnuson Svasti

    Citation: BMC Medical Genetics 2019 20:156

    Content type: Research article

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  16. Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ...

    Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang

    Citation: BMC Medical Genetics 2019 20:155

    Content type: Research article

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  17. Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reas...

    Authors: Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir and Deborah Mukherji

    Citation: BMC Medical Genetics 2019 20:154

    Content type: Research article

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  18. Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in...

    Authors: Dan Li, Qinghe Jing and Yongxiang Jiang

    Citation: BMC Medical Genetics 2019 20:153

    Content type: Research article

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  19. Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ...

    Authors: Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul and Torben Hansen

    Citation: BMC Medical Genetics 2019 20:152

    Content type: Research article

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  21. Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to expl...

    Authors: Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam…

    Citation: BMC Medical Genetics 2019 20:150

    Content type: Research article

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  22. Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea...

    Authors: Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian and Vincenzo Denaro

    Citation: BMC Medical Genetics 2019 20:149

    Content type: Research article

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  23. Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of th...

    Authors: Laith N. AL-Eitan, Doaa M. Rababa’h, Mansour A. Alghamdi and Rame H. Khasawneh

    Citation: BMC Medical Genetics 2019 20:148

    Content type: Research article

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  24. The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrom...

    Authors: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan and Hossein Fahimi

    Citation: BMC Medical Genetics 2019 20:147

    Content type: Case report

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  25. Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogen...

    Authors: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang and Shiguo Liu

    Citation: BMC Medical Genetics 2019 20:146

    Content type: Case report

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  26. Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 g...

    Authors: Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka and Asma Gul

    Citation: BMC Medical Genetics 2019 20:145

    Content type: Research article

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  27. Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and ...

    Authors: Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary and Sherin Bakhashab

    Citation: BMC Medical Genetics 2019 20:144

    Content type: Research article

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  28. Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ...

    Authors: Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi and Mahsa M. Amoli

    Citation: BMC Medical Genetics 2019 20:143

    Content type: Case report

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  29. Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis ...

    Authors: Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng and Min Ye

    Citation: BMC Medical Genetics 2019 20:142

    Content type: Research article

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  30. This meta-analysis was performed to evaluate the relationship between hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism and the susceptibility to renal cell carcinoma (RCC) and prostate cancer (PCa).

    Authors: Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin and Hongzhen Zhong

    Citation: BMC Medical Genetics 2019 20:141

    Content type: Research article

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  31. Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni...

    Authors: Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins and Evans Raballah

    Citation: BMC Medical Genetics 2019 20:140

    Content type: Research article

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  32. Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments hav...

    Authors: Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang and Lingrong Kong

    Citation: BMC Medical Genetics 2019 20:139

    Content type: Research article

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  33. Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys...

    Authors: Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof and Amy S. Rosenberg

    Citation: BMC Medical Genetics 2019 20:138

    Content type: Research article

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  35. Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nat...

    Authors: Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca and Sjarif Hidajat Effendi

    Citation: BMC Medical Genetics 2019 20:136

    Content type: Research article

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  36. Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi...

    Authors: Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai and Ling-Li Wang

    Citation: BMC Medical Genetics 2019 20:135

    Content type: Research article

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  37. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...

    Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao

    Citation: BMC Medical Genetics 2019 20:134

    Content type: Case report

    Published on:

  38. Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal join...

    Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu and Xiong Wang

    Citation: BMC Medical Genetics 2019 20:133

    Content type: Research article

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  39. FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES ty...

    Authors: Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś

    Citation: BMC Medical Genetics 2019 20:132

    Content type: Case report

    Published on:

  40. CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant....

    Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas

    Citation: BMC Medical Genetics 2019 20:131

    Content type: Case report

    Published on:

  41. Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (O...

    Authors: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu and Jing Wang

    Citation: BMC Medical Genetics 2019 20:130

    Content type: Case report

    Published on:

  42. Several studies have been performed to investigate the associations between interleukin (IL)-8 rs4073 polymorphism and acute pancreatitis (AP), but the results are inconclusive. We conducted this cumulative me...

    Authors: Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang and Dongliang Liu

    Citation: BMC Medical Genetics 2019 20:129

    Content type: Research article

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  43. Increasingly, molecular measurements from multiple studies are pooled to identify risk scores, with only partial overlap of measurements available from different studies. Univariate analyses of such markers ha...

    Authors: Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder

    Citation: BMC Medical Genetics 2019 20:128

    Content type: Technical advance

    Published on:

  44. CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt...

    Authors: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė

    Citation: BMC Medical Genetics 2019 20:127

    Content type: Case report

    Published on:

  45. Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatologic...

    Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura

    Citation: BMC Medical Genetics 2019 20:126

    Content type: Case report

    Published on:

  46. Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease...

    Authors: Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim and Christopher L. Sanders

    Citation: BMC Medical Genetics 2019 20:125

    Content type: Research article

    Published on:

  47. The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two u...

    Authors: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun

    Citation: BMC Medical Genetics 2019 20:124

    Content type: Case report

    Published on:

  48. Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lys...

    Authors: Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov and Ekaterina Y. Zakharova

    Citation: BMC Medical Genetics 2019 20:123

    Content type: Research article

    Published on:

  49. Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the...

    Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat and Nader Shakibazad

    Citation: BMC Medical Genetics 2019 20:122

    Content type: Case report

    Published on:

  50. The mitochondrial genotype 5178 cytosine/adenine (5178 C > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s...

    Authors: Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li

    Citation: BMC Medical Genetics 2019 20:121

    Content type: Research article

    Published on:

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