Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

PURPOSE: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). METHODS: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequen...

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Autori principali: Yzer, Suzanne, den Hollander, Anneke I., Lopez, Irma, Pott, Jan-Willem R., de Faber, Jan Tjeerd H.N., Cremers, Frans P.M., Koenekoop, Robert K., van den Born, L. Ingeborgh
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2012
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283211/
https://ncbi.nlm.nih.gov/pubmed/22355252
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