article_metadata: Bülent Kara Özgecan Ayhan Gülden Gökçay Nurdan Başboğaoğlu Aslıhan Tolun
article_metadata: 10.1186/1471-2350-15-10
article_metadata: BMC Med Genet
article_metadata: 2014 Jan 16;15:10.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24433453/
article_metadata: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics Congenital Disorders of Glycosylation / enzymology Congenital Disorders of Glycosylation / genetics Membrane Proteins / genetics Phenotype
article_metadata: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics Congenital Disorders of Glycosylation / enzymology Congenital Disorders of Glycosylation / genetics Membrane Proteins / genetics Phenotype Case Reports Research Support, Non-U.S. Gov't Adult Congenital Disorders of Glycosylation / pathology Congenital Disorders of Glycosylation / physiopathology Female Humans Male Mutation Polymorphism, Single Nucleotide Siblings Membrane Proteins 3-Oxo-5-alpha-Steroid 4-Dehydrogenase SRD5A3 protein, human
article_metadata: PMC3898029
article_metadata: 24433453
article_metadata: Adult phenotype and further phenotypic variability in SRD5A3-CDG
article_metadata: 2014