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Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1

PURPOSE: To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). METHODS: An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is c...

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Detalles Bibliográficos
Autores principales:	Liu, Fei, Li, Pengcheng, Liu, Ying, Li, Weirong, Wong, Fulton, Du, Rong, Wang, Lei, Li, Chang, Jiang, Fagang, Tang, Zhaohui, Liu, Mugen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611938/ https://www.ncbi.nlm.nih.gov/pubmed/23559863

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