Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

Leber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mut...

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Detalhes bibliográficos
Main Authors: Coppieters, Frauke, Casteels, Ingele, Meire, Françoise, De Jaegere, Sarah, Hooghe, Sally, van Regemorter, Nicole, Van Esch, Hilde, Matulevičienė, Aušra, Nunes, Luis, Meersschaut, Valérie, Walraedt, Sophie, Standaert, Lieve, Coucke, Paul, Hoeben, Heidi, Kroes, Hester Y, Vande Walle, Johan, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley Subscription Services, Inc., A Wiley Company 2010
Assuntos:
Mutation in Brief
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3048164/
https://ncbi.nlm.nih.gov/pubmed/20683928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21336
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