Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiency

  title={Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiency},
  author={Vilchis and Méndez and Canto and Lieberman and Ch{\'a}vez},
  journal={Clinical Endocrinology},
  • Vilchis, Méndez, +2 authors Chávez
  • Published 2000
  • Biology, Medicine
  • Clinical Endocrinology
  • Mutations of the steroid 5α‐reductase type 2 (SRD5A2) gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from complete female to nearly complete male. Here we performed genomic DNA analyses from individuals bearing the enzyme deficiency in order to detect the molecular abnormalities. 
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