Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene

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. METHO...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Clinical Science - Scientific Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1860205/
https://ncbi.nlm.nih.gov/pubmed/16714263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2005.084897
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