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Article

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

Human molecular genetics - 1 Oct 1992

Batch J A, Williams D M, Davies H R, Brown B D, Evans B A, Hughes I A, Patterson M N

Abstract excerpt

The androgen insensitivity syndrome (AIS) is a disorder of male sexual development resulting in a wide range of clinical phenotypes. AIS is classified into two phenotypic forms: complete (CAIS) and partial (PAIS). To determine the molecular basis of the phenotypic diversity in AIS, we have studied 27 subjects (13 CAIS, 14 PAIS), spanning the full range of AIS phenotypes. We report the results of a mutation screen...

Topics

Androgens
Base Sequence
Cell Line
DNA
Disorders of Sex Development
Exons
Female
Frameshift Mutation
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

Polymorphism, Genetic

Receptors, Androgen

Sequence Deletion

Source

Identifiers

PMID: 1307250
DOI: 10.1093/hmg/1.7.497

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1307250-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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