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Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis

✍ Scribed by Gimelli, Giorgio; Gimelli, Stefania; Dimasi, Nazzareno; Bocciardi, Renata; Battista, Eliana Di; Pramparo, Tiziano; Zuffardi, Orsetta


Book ID
110026820
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
135 KB
Volume
15
Category
Article
ISSN
1018-4813

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Description and functional implications
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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