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Mutations of the 5α‐reductase Type 2 gene in eight Mexican patients from six different pedigrees with 5α‐reductase‐2 deficiency

1 Feb 1997

Abstract excerpt

BACKGROUND AND OBJECTIVE: Male pseudohermaphroditism due to 5 alpha-reductase deficiency was originally described in 1974. Recently, 5 alpha-reductase Type 2 gene defects have been found generally to be due to point mutations within the 5 exons of the 5 alpha-reductase-2 gene. In this report, we describe the molecular study of patients with 5 alpha-reductase deficiency. DESIGN: Previously diagnosed patients with...

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PMID: 9135696
DOI: 10.1046/j.1365-2265.1997.800904.x

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