Titre:
  • Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Auteur:Coppieters, Frauke; Casteels, Ingele; Meire, Françoise; De Jaegere, Sarah; Hooghe, Sally; Van Regemorter, Nicole; Van Esch, Hilde; Matuleviciene, Ausra; Nunes, Luis; Meersschaut, Valérie; Walraedt, Sophie; Standaert, Lieve; Coucke, P.; Hoeben, Heidi; Kroes, Hester Y; Schurmans, Thierry; de Ravel, Thomy; Leroy, Bart P; De Baere, Elfride
Informations sur la publication:Human mutation, 31, 10, page (E1709-E1766)
Statut de publication:Publié, 2010-10
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:AHI1
CEP290
Genotype-phenotype correlation
LCA
Modifier
MeSH keywords:Young Adult
Note générale:Journal Article
Research Support, Non-U.S. Gov't
FLWOA
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1059-7794
info:doi/10.1002/humu.21336
info:scp/78650648893
info:pmid/20683928
PMC3048164