Bülent Kara Özgecan Ayhan Gülden Gökçay Nurdan Başboğaoğlu Aslıhan Tolun
10.1186/1471-2350-15-10
BMC Med Genet
2014 Jan 16;15:10.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24433453/
3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics Congenital Disorders of Glycosylation / enzymology Congenital Disorders of Glycosylation / genetics Membrane Proteins / genetics Phenotype
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
PMC3898029
24433453
Adult phenotype and further phenotypic variability in SRD5A3-CDG
2014