Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome

Autor:	Jiu Mu Zhou, Chuan Yu Liang, Dorothy Trump, Karen P. Steel, James Walsh, Xiao Mei Ke, Sarah Bundey, Xue-Zhong Liu, Steve D.M. Brown, Carolyn Hope, Li Ron Xu, Valerie Newton
Rok vydání:	1998
Předmět:	Genetics Mutation Myosin VIIa genetic structures MYO7A Usher syndrome education Usher Syndrome Type 1 Biology medicine.disease medicine.disease_cause Medical research eye diseases Phenotypic spectrum Myosin VIIA Retinitis pigmentosa otorhinolaryngologic diseases medicine Genetics(clinical) Gene Atypical Usher syndrome health care economics and organizations Genetics (clinical) Mutation scanning
Zdroj:	The American Journal of Human Genetics. 63:909-912
ISSN:	0002-9297
DOI:	10.1086/302026
Popis:	This work was supported by the Medical Research Council (U.K.), Defeating Deafness—the Hearing Research Trust, and SENSE and by European Community grant CT96-1324. C.H. acknowledges support from the British Retinitis Pigmentosa Society and the Birmingham Eye Foundation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3198ddf21b99657ed5650eac52b5b09f https://doi.org/10.1086/302026 Zobrazit plný text záznamu