Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

PURPOSE: To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene. METHODS: A consanguineous family of Middle Eastern origin was identified, and affected members underwent a full clinical evaluation. Linkage analysi...

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Main Authors: Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2010
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Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2838735/
https://ncbi.nlm.nih.gov/pubmed/20300561
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