Article
Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.
Molecular vision - 1 Jan 2013
Liu Fei, Li Pengcheng, Liu Ying, Li Weirong, Wong Fulton, Du Rong, Wang Lei, Li Chang, Jiang Fagang, Tang Zhaohui, Liu Mugen
Abstract excerpt
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 i...
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