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Article

A novel splice site mutation in the androgen receptor gene results in exon skipping and a non-functional truncated protein.

Molecular and cellular endocrinology - 8 Aug 1997

Lim J, Ghadessy F J, Yong E L

Abstract excerpt

Mutations of the androgen receptor (AR) gene and protein are associated with complete androgen insensitivity syndromes (CAIS) in individuals with XY genotypes causing them to develop as phenotypic females. Splice site mutations of the AR gene are very rare and in this report we describe the consequences of a novel G --> A mutation at the exon 7/intron 7 splice junction of the AR gene that resulted in CAIS in two...

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Identifiers

PMID: 9296379
DOI: 10.1016/s0303-7207(97)00109-3

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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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