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Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

MYO7A gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). MYO7A mutations are reported in nine DFNB2 families to date, none from sub-Saharan Africa.In DNA, from a cohort of 94 i...

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Detalles Bibliográficos
Autores principales:	Kabahuma, Rosemary Ida, Schubert, Wolf-Dieter, Labuschagne, Christiaan, Yan, Denise, Blanton, Susan Halloran, Pepper, Michael Sean, Liu, Xue Zhong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7919343/ https://www.ncbi.nlm.nih.gov/pubmed/33671976 http://dx.doi.org/10.3390/genes12020274

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