A frameshift mutation in SANS results in atypical Usher syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01500.x/fullpdf
Reference9 articles.
1. Clinical and molecular genetics of Usher syndrome;Kimberling;J Am Acad Audiol,1995
2. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin;Weil;Hum Mol Genet,2003
3. Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice;Kikkawa;Hum Mol Genet,2003
4. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome;Kalay;J Mol Med,2005
5. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population;Ouyang;Hum Genet,2005
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