A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

PURPOSE: To describe the finding of a novel calcium binding protein 4 (CABP4) mutation in a family with Leber congenital amaurosis (LCA) phenotype. METHODS: Homozygosity mapping was performed in a consanguineous family with four affected members originally referred as cases of LCA. Detailed electror...

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Detalles Bibliográficos
Autores principales: Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820108/
https://www.ncbi.nlm.nih.gov/pubmed/20157620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820108/
https://www.ncbi.nlm.nih.gov/pubmed/20157620

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