Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Weston M, Kelley P, Overbeck L, Wagenaar M, Orten D, Hasson T, Chen Z, Corey D, Mooseker M, Sumegi J, Cremers C, Moller C, Jacobson S, Gorin M, Kimberling W. Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. American Journal Of Human Genetics 1996, 59: 1074-83. PMID: 8900236, PMCID: PMC1914835.Peer-Reviewed Original ResearchConceptsCongenital profound hearing lossMyosin-VIIa mutationsType 1 patientsProfound hearing lossUsher syndrome type 1BUnique mutationsPresence of mutationsAutosomal recessive disorderVestibular abnormalitiesMyosin VIIA geneHearing lossRetinitis pigmentosaPatientsType 1bI casesRecessive disorderSingle caseCompound heterozygotesPremature stop codonSimple heterozygotesGreater percentageUnrelated control samplesDisordersMutant allelesCurrent study