Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

doi:10.1210/jcem.78.3.8126121

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Article

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

The Journal of clinical endocrinology and metabolism - 1 Mar 1994

De Bellis A, Quigley C A, Marschke K B, el-Awady M K, Lane M V, Smith E P, Sar M, Wilson E M, French F S

Abstract excerpt

The androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations of the androgen receptor (AR) gene resulting in a spectrum of sex phenotypes that ranges from complete female (complete AIS) to nearly complete male (partial AIS). Using the polymerase chain reaction and denaturing gradient gel electrophoresis, we have analyzed the AR gene in three 46,XY individuals with partial AIS. In one...

Topics

Adolescent
Adult
Androgens
DNA
Disorders of Sex Development
Genes
Genetic Linkage
Genitalia
Humans
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Receptors, Androgen

Skin

Syndrome

Transcription, Genetic

X Chromosome

Source

Open in PubMed

Identifiers

PMID: 8126121
DOI: 10.1210/jcem.78.3.8126121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8126121-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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