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Article

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

American journal of medical genetics - 3 Mar 1997

Vilchis F, Canto P, Chávez B, Ulloa-Aguirre A, Méndez J P

Abstract excerpt

This report describes the identification of a point mutation in the 5 alpha-reductase type 2 (5 alpha-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5 alpha-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analysed for single-strand conformation polymorphisms (SSCP) to detect mutations. Direct sequencing of the...

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Identifiers

PMID: 9066886

Genes

CGA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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