Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family

PURPOSE: To report the clinical and genetic findings of one family with autosomal recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An institutional study of three family members from two generations. The clinical examination included best-corrected Snellen visual acuity...

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Publicado en:Mol Vis
Autores principales: Dias, Miguel de Sousa, Hamel, Christian P., Meunier, Isabelle, Varin, Juliette, Blanchard, Steven, Boyard, Fiona, Sahel, José-Alain, Zeitz, Christina
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5360453/
https://ncbi.nlm.nih.gov/pubmed/28356705
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