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DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis

  • Published:2009-02 Issue:2 Volume:299 Page:212-218
  • ISSN:0303-7207
  • Container-title:Molecular and Cellular Endocrinology
  • language:en
  • Short-container-title:Molecular and Cellular Endocrinology

Author:

Sánchez-Moreno Irene,Canto Patricia,Munguía Patricia,de León Mario Bermúdez,Cisneros Bulmaro,Vilchis Felipe,Reyes Edgardo,Méndez Juan Pablo

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference42 articles.

1. Analysis of the SRY gene in 22 sex-reversed XY females identifies for new point mutations in the conserved DNA binding domain;Affara;Hum. Mol. Genet.,1993

2. 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;Assumpcao;J. Mol. Med.,2002

3. Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis;Baldazzi;Clin. Genet.,2003

4. Microwave-based DNA extraction from paraffin-embedded tissue for PCR amplification;Banerjee;Biotechniques,1995

5. The electrophoretic mobility shift assay for DNA binding proteins;Black,1998

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