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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2820108/ https://ncbi.nlm.nih.gov/pubmed/20157620 |
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