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Article

Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.

The Journal of steroid biochemistry and molecular biology - 1 Mar 1993

Lobaccaro J M, Lumbroso S, Berta P, Chaussain J L, Sultan C

Abstract excerpt

In a French child with complete androgen insensitivity syndrome and negative receptor-binding, no gross deletion has been found. Using single-strand conformation polymorphism assay, a useful screening method for rapid detection of DNA sequence alterations, and direct DNA sequencing, a G-T nucleotide substitution in exon 5 of the androgen receptor gene at nucleotide 2590 was found. This changed codon 743, glycine...

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Identifiers

PMID: 8096390
DOI: 10.1016/0960-0760(93)90081-7

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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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