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Article

A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

23 Feb 1998

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Sexual Differentiation and Disorders
Share to Sperm and Testicular Function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 9521592
DOI: 10.1007/s004390050680

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Related research

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A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relativesPMID 9521592Read ↗

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.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 ↗

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.Semantic proximity Read ↗

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.Semantic proximity Read ↗

The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.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 ↗

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.Semantic proximity Read ↗

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

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.Semantic proximity Read ↗

Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRYSemantic proximity Read ↗

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.Semantic proximity Read ↗

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patientSemantic proximity Read ↗

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