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A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism

✍ Scribed by Sung Hoon Kim; Kun Suk Kim; Gu Hwan Kim; Byung Moon Kang; Han Wook Yoo


Book ID
116468430
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
201 KB
Volume
85
Category
Article
ISSN
1556-5653

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New frameshift mutation in the 5?-reduct
✍ Ferraz, L�cio F�bio Caldas; Mathias Baptista, Maria Teresa; Maciel-Guerra, Andr� 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Male pseudohermaphroditism caused by steroid 5␣-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5␣-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male g