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 is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding...
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