Article
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Molecular vision - 1 Jan 2011
Rizel Leah, Safieh Christine, Shalev Stavit A, Mezer Eedy, Jabaly-Habib Haneen, Ben-Neriah Ziva, Chervinsky Elena, Briscoe Daniel, Ben-Yosef Tamar
Abstract excerpt
PURPOSE: This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. METHODS: Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, specific primers were...
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