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Article

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

Human genetics - 1 Oct 1997

Battiloro E, Angeletti B, Tozzi M C, Bruni L, Tondini S, Vignetti P, Verna R, D'Ambrosio E

Abstract excerpt

We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to...

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Source

Identifiers

PMID: 9341876
DOI: 10.1007/s004390050557

Genes

SRY

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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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A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.PMID 9341876Read ↗

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Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.Semantic proximity Read ↗

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