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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Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Wiley Subscription Services, Inc., A Wiley Company 2010
Teme:
Mutation in Brief
Online pristup: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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