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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Mutation in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048164/
https://www.ncbi.nlm.nih.gov/pubmed/20683928
http://dx.doi.org/10.1002/humu.21336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048164/
https://www.ncbi.nlm.nih.gov/pubmed/20683928
http://dx.doi.org/10.1002/humu.21336

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