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Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis

✍ 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

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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