Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis
β Scribed by Fergus J. Cameron; Matthijs J. Smith; Garry L. Warne; Dr. Andrew H. Sinclair
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 177 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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The sex-determining gene SRY was screened for molecular alteration in an XY sex-reversed female by single-strand conformation polymorphism (SSCP) technique. An A-to-G transition was detected which leads to an exchange of a tyrosine by a cysteine in the SRY protein. The affected tyrosine residue loca