Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.

CONCLUSION: The Russian USH cohort shows both novel and known USH mutations. Clinically the prevalence of USH2 is low (39.28%) and the frequency of MYO7A mutations responsible for USH1B is very high (63.63%, N = 7/11) compared to other cohorts. These seven patients carrying MYO7A mutations are preliminarily eligible for the UshStat® gene therapy. PMID: 30358468 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)

MedWorm Message: Have you tried our new medical search engine? More powerful than before. Log on with your social media account. 100% free.

from #Head and Neck by Sfakianakis via simeraentaxei on Inoreader https://ift.tt/2PvQJBO