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Article

5 alpha-reductase-2 gene mutations in the Dominican Republic.

The Journal of clinical endocrinology and metabolism - 1 May 1996

Cai L Q, Zhu Y S, Katz M D, Herrera C, Baéz J, DeFillo-Ricart M, Shackleton C H, Imperato-McGinley J

Abstract excerpt

Male pseudohermaphroditism due to 5 alpha-reductase deficiency was clinically and biochemically described in a large Dominican kindred of 23 families with 38 affected subjects in 1974. Recently, the 5 alpha-reductase-2 gene defect in the large Dominican kindred was found to be due to a single base substitution of thymidine (TGG) for cytosine (CGG) on exon 5 of the 5 alpha-reductase-2 gene, causing a tryptophan...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8626825
DOI: 10.1210/jcem.81.5.8626825

Genes

AGT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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