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
Autor principal: Coppieters, F (author)
Outros Autores: Casteels, I (author), Meire, F (author), De Jaegere, S (author), Hooghe, S (author), van Regemorter, N (author), Van Esch, H (author), Matuleviciene, A (author), Nunes, L (author), Meersschaut, V (author), Walraedt, S (author), Standaert, L (author), Coucke, P (author), Hoeben, H (author), Kroes, H (author), Vande Walle, J (author), de Ravel, T (author), Leroy, B (author), De Baere, E (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Adaptor Proteins, Signal Transducing
Adolescent
Adult
Antigens, Neoplasm
Belgium
Child
Child, Preschool
DNA Mutational Analysis
Gene Expression Profiling
Genotype
Humans
Infant
Leber Congenital Amaurosis
Middle Aged
Neoplasm Proteins
Oligonucleotide Array Sequence Analysis
Phenotype
Proteins
Retinal Degeneration
Retinal Dystrophies
Young Adult
Alleles
Genetic Testing
HDE - GEN
Texto completo:http://hdl.handle.net/10400.17/2486
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2486

Texto Completo

http://hdl.handle.net/10400.17/2486

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