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  1. Poor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3′-untranslated region of the collagen type V α1 chain gene (COL5A1) is reportedly ...

    Authors: Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito and Noriyuki Fuku

    Citation: BMC Medical Genetics 2019 20:192

    Content type: Research article

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  2. Prostate cancer (Pca) remains one of the leading adult malignancies. PTEN (Phosphatase and Tensin Homolog) mutant is the top common mutated genes in prostate cancer, which makes it a promising biomarker in fut...

    Authors: Jian Sun, Shugen Li, Fei Wang, Caibin Fan and Jianqing Wang

    Citation: BMC Medical Genetics 2019 20:191

    Content type: Research article

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  3. Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording high incidence of preeclampsia, we examined if factor V Leiden is a contrib...

    Authors: G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye and I. K. Quaye

    Citation: BMC Medical Genetics 2019 20:189

    Content type: Research article

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  4. Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr...

    Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin

    Citation: BMC Medical Genetics 2019 20:188

    Content type: Case report

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  5. Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

    Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong

    Citation: BMC Medical Genetics 2019 20:187

    Content type: Case report

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  6. Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA).

    Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene and Loresa Kriauciuniene

    Citation: BMC Medical Genetics 2019 20:185

    Content type: Research article

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  7. A 32-base pair deletion (∆32) in the open reading frame (ORF) of C-C motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency virus type...

    Authors: Amir Tajbakhsh, Mostafa Fazeli, Mehdi Rezaee, Faezeh Ghasemi, Mastoureh Momen Heravi, Aida Gholoobi and Zahra Meshkat

    Citation: BMC Medical Genetics 2019 20:184

    Content type: Research article

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  8. It is well established that long-term use of aspirin can cause gastric mucosal injury. ACEIs and ARBs are inversely related to gastric ulcer development. This study aimed to evaluate the relationship between SLCO...

    Authors: Lei Duan, Yongyi Bai, Man Li, Huiying Li, Yanping Li and Hongbin Liu

    Citation: BMC Medical Genetics 2019 20:183

    Content type: Research article

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  9. Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co...

    Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao and Bao-Ping Xu

    Citation: BMC Medical Genetics 2019 20:182

    Content type: Case report

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  10. PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...

    Authors: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He and Huaiyu Gu

    Citation: BMC Medical Genetics 2019 20:181

    Content type: Case report

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  11. Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy...

    Authors: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu and Zhengfeng Xu

    Citation: BMC Medical Genetics 2019 20:180

    Content type: Research article

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  12. In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are ...

    Authors: Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen and Ismail Cüneyt Güzey

    Citation: BMC Medical Genetics 2019 20:179

    Content type: Research article

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  13. Oxytocin receptor (OXTR) gene variants have been shown to affect the prevalence of preterm birth, mode of delivery and oxytocin (OXT) requirements for labor induction and augmentation. We hypothesized that this m...

    Authors: F. Füeg, S. Santos, C. Haslinger, B. Stoiber, L. Schäffer, E. Grünblatt, R. Zimmermann and A. P. Simões-Wüst

    Citation: BMC Medical Genetics 2019 20:178

    Content type: Research article

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  14. Lung cancer is a leading cause of death from cancer worldwide, especially non-small cell lung cancer (NSCLC). The marker of progression in lung adenocarcinoma, the main type of NSCLC, has been rarely studied. ...

    Authors: Kun Huang, Erqiang Hu, Wan Li, Junjie Lv, Yuehan He, Gui Deng, Jinling Xiao, Chengcheng Yang, Xinyu Zhao, Lina Chen and Xinyan Wang

    Citation: BMC Medical Genetics 2019 20:177

    Content type: Research article

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  15. Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer and Imad Bou Akl

    Citation: BMC Medical Genetics 2019 20:176

    Content type: Research article

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  16. Cancer is a heterogeneous disease with many genetic variations. Lines of evidence have shown copy number variations (CNVs) of certain genes are involved in development and progression of many cancers through t...

    Authors: Xin Shao, Ning Lv, Jie Liao, Jinbo Long, Rui Xue, Ni Ai, Donghang Xu and Xiaohui Fan

    Citation: BMC Medical Genetics 2019 20:175

    Content type: Research article

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  17. Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

    Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu and Chunquan Cai

    Citation: BMC Medical Genetics 2019 20:174

    Content type: Case report

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  18. Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The ...

    Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin and Michael J. Kutryk

    Citation: BMC Medical Genetics 2019 20:173

    Content type: Research article

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  19. Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent.

    Authors: Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian and Jie Qiao

    Citation: BMC Medical Genetics 2019 20:172

    Content type: Case report

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  20. Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) ...

    Authors: Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen and Sarwat Jahan

    Citation: BMC Medical Genetics 2019 20:171

    Content type: Research article

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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. (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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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