Benutzer: Gast  Login
Titel:

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
den Hollander, AI; Koenekoop, RK; Yzer, S; Lopez, I; Arends, ML; Voesenek, KE; Zonneveld, MN; Strom, TM; Meitinger, T; Brunner, HG; Hoyng, CB; van den Born, LI; Rohrschneider, K; Cremers, FP
Abstract:
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases. We localized the genetic defect in a consanguineous LCA-affected family from Quebec and identified a splice defect in a gene encoding a centrosomal protein (CEP290). The defect is caused by an intronic mutation (c.2991+1655A-->G) that creates a strong splice-donor site and inserts a cryptic exon in the...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2006
Band / Volume:
79
Heft / Issue:
3
Seitenangaben Beitrag:
556-61
Sprache:
eng
Volltext / DOI:
doi:10.1086/507318
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16909394
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
 BibTeX