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Article

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.

Human genetics - 1 Feb 1992

Hawkins J R, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow P N

Abstract excerpt

XY females (n = 17) were analysed for mutations in SRY (sex-determining region Y gene), a gene that has recently been equated with the testis determining factor (TDF). SRY sequences were amplified by the polymerase chain reaction (PCR) and analysed by both the single strand conformational polymorphism assay (SSCP) and DNA sequencing. The DNA from two individuals gave altered SSCP patterns; only these two...

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Source

Identifiers

PMID: 1339396
DOI: 10.1007/BF00215684

Genes

SRY

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.PMID 1339396Read ↗

Mutational analysis of SRY in XY females.Semantic proximity Read ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

Genetic evidence equating SRY and the testis-determining factor.Semantic proximity Read ↗

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.Semantic proximity Read ↗

Testis-determining factor and Y-linked sex reversal.Semantic proximity Read ↗

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

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.Semantic proximity Read ↗

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.Semantic proximity Read ↗

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.Semantic proximity Read ↗

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