Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference62 articles.
1. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain;Affara;Hum. Mol. Genet.,1993
2. A novel SRY gene mutation p.F109L in a 46,XY female with complete gonadal dysgenesis;Andonova;Sex. Dev.,2016
3. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes;Assumpção;J. Mol. Med.,2002
4. Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis;Baldazzi;Clin. Genet.,2003
5. Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report;Battaglia;J. Obstet. Gynaecol. Res.,2013
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