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Article

Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.

Human mutation - 1 Jan 1998

Poulat F, Desclozeaux M, Tuffery S, Jay P, Boizet B, Berta P

Abstract excerpt

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Topics

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Share to DNA-Binding Proteins
Share to Gonadal Dysgenesis, 46,XY
Share to Nuclear Proteins
Share to Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

Share to Promoter Regions, Genetic

Share to Sex Determination Processes

Share to Sex-Determining Region Y Protein

Source

Identifiers

PMID: 9452083
DOI: 10.1002/humu.1380110162

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.PMID 9452083Read ↗

A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293Semantic proximity Read ↗

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patientSemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.Semantic proximity Read ↗

Characterization and mutations in the human sex determining factor SRYSemantic proximity Read ↗

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

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesisSemantic 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 ↗

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.Semantic 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 postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.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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