Article
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
The British journal of ophthalmology - 1 Jun 2006
Tschernutter M, Jenkins S A, Waseem N H, Saihan Z, Holder G E, Bird A C, Bhattacharya S S, Ali R R, Webster A R
Abstract excerpt
BACKGROUND/AIM: MERTK, a tyrosine kinase receptor protein expressed by the retinal pigment epithelium (RPE), is mutated in both rodent models and humans affected by retinal disease. This study reports a survey of families for Mertk mutations and describes the phenotype exhibited by one family. METHODS: 96 probands with retinal dystrophy, consistent with autosomal recessive segregation, were screened by direct...
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