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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Autors principals: Liu, Fei, Li, Pengcheng, Liu, Ying, Li, Weirong, Wong, Fulton, Du, Rong, Wang, Lei, Li, Chang, Jiang, Fagang, Tang, Zhaohui, Liu, Mugen
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2013
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3611938/
https://ncbi.nlm.nih.gov/pubmed/23559863
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