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Article

A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

Molecular and cellular endocrinology - 28 Apr 1995

Gast A, Neuschmid-Kaspar F, Klocker H, Cato A C

Abstract excerpt

A single exchange of an alanine to a threonine at amino acid position 596 in the androgen receptor has been identified as an inheritable trait in patients with Reifenstein syndrome. This exchange is a result of a germ line mutation in the genomic DNA sequences that make up the D-loop of the receptor. The D-loop and sequences in the hormone binding domain together provide the interacting surfaces for receptor...

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PMID: 7649358
DOI: 10.1016/0303-7207(95)03554-k

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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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A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.PMID 7649358Read ↗

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