A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

doi:10.1038/348452a0

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Article

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

Nature - 29 Nov 1990

Jäger R J, Anvret M, Hall K, Scherer G

Abstract excerpt

The primary decision about male or female sexual development of the human embryo depends on the presence of the Y chromosome, more specifically on a gene on the Y chromosome encoding a testis-determining factor, TDF. The human sex-determining region has been delimited to a 35-kilobase interval ne...

Topics

Amino Acid Sequence
Base Sequence
DNA-Binding Proteins
Disorders of Sex Development
Female
Humans
Kruppel-Like Transcription Factors
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Transcription Factors

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