A new familial mutation (R133G) in the SRY gene-Reference-Cited by-同舟云学术

A new familial mutation (R133G) in the SRY gene

Published:2007-04-25 Issue:5 Volume:71 Page:480-482
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Plaseska-Karanfilska D,Noveski P,Kuzevska K,Basheska N,Kocova M,Efremov GD

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00796.x/fullpdf

Reference7 articles.

1. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif;Sinclair;Nature,1990

2. Cooper DN Ball EV Stenson PD et al The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff (HMGD) http://www.hgmd.cf.ac.uk/ac/index.php

3. Clinical and pathological spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation;Berkovitz;Medicine (Baltimore),1991

4. Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations;Harley;Proc Natl Acad Sci U S A,2003

5. 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

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1. A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review;Journal of Clinical Medicine;2024-01-30

2. Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY;2021-05-06

3. Generation and mutational analysis of a transgenic mouse model of human SRY;2021-03-04

4. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import;Gene;2018-04

5. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development;BRAZ J MED BIOL RES;2011