Article
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
Molecular vision - 9 Mar 2010
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
Abstract excerpt
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 analysis was performed using the Affymetrix 50K chip. Regions of homozygosity were identified. The positional candidate...
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