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Article

A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female.

Fertility and sterility - 1 Jul 1999

Takagi A, Imai A, Tamaya T

Abstract excerpt

OBJECTIVE: To determine whether an SRY mutation participated in the phenotypic outcome in the case of a 45,X/47,XYY female. DESIGN: Analysis of genomic DNA for mutations in SRY. SETTING: An academic teaching hospital. PATIENT(S): A family that included one phenotypic female with 45,X/47,XYY mosaicism. INTERVENTION(S): Extraction of DNA, polymerase chain reaction analysis, nucleotide sequencing, and restriction...

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Source

Identifiers

PMID: 10428169
DOI: 10.1016/s0015-0282(99)00168-5

Genes

SRY
TAT

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.

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