Article
A familial mutation in the testis-determining gene SRY shared by both sexes.
Human genetics - 1 Dec 1992
Jäger R J, Harley V R, Pfeiffer R A, Goodfellow P N, Scherer G
Abstract excerpt
A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the...
Topics
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- DNA
- DNA-Binding Proteins
- Female
- High Mobility Group Proteins
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nuclear Proteins
- Pedigree
- Polymerase Chain Reaction
- Sex-Determining Region Y Protein
- Transcription Factors