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Article

A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.

The Journal of clinical endocrinology and metabolism - 1 Jun 2001

Hellwinkel O J, Holterhus P M, Struve D, Marschke C, Homburg N, Hiort O

Abstract excerpt

In a patient with partial androgen insensitivity syndrome (AIS), we identified a single inherited presumably silent nucleotide variation (AGC -> AGT) in exon 8 (codon 888) of the AR gene. However, in the patient's genital skin fibroblasts, a considerably shortened transcript of 5.5 kb (normal: 10.5 kb) was detected, which misses a part of exon 8 and a prominent portion of the 3'-untranslated region. The...

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Source

Identifiers

PMID: 11397856
DOI: 10.1210/jcem.86.6.7543

Genes

AGT

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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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