TY - JOUR AU - Kara, Bülent AU - Ayhan, Özgecan AU - Gökçay, Gülden AU - Başboğaoğlu, Nurdan AU - Tolun, Aslıhan PY - 2014 DA - 2014/01/16 TI - Adult phenotype and further phenotypic variability in SRD5A3-CDG JO - BMC Medical Genetics SP - 10 VL - 15 IS - 1 AB - SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-15-10 DO - 10.1186/1471-2350-15-10 ID - Kara2014 ER -