7 Steroid 5α-reductase deficiency — a disorder of steroid metabolism at the site of androgen action

Molecular analysis of the 5α-steroid red

Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme

✍ Vilchis, F.; Canto, P.; Chávez, B.; Ulloa-Aguirre, A.; Méndez, J. P. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

This report describes the identification of a point mutation in the 5␣-reductase type 2 (5␣-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5␣-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analyse