Article
Identification of two novel mutations in families with X-linked ocular albinism.
Molecular vision - 2 Oct 2007
Iannaccone Alessandro, Gallaher Kevin T, Buchholz Janda, Jennings Barbara J, Neitz Maureen, Sidjanin D J
Abstract excerpt
PURPOSE: Our goal was to evaluate the OA1 gene, also known as G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. Both families had previously tested negative for mutations. METHODS: Selected family members underwent a detailed ophthalmologic evaluation. Blood samples were obtained, and...
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