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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. Among authors: le guedard s. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.