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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838735/
https://www.ncbi.nlm.nih.gov/pubmed/20300561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838735/
https://www.ncbi.nlm.nih.gov/pubmed/20300561

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