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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Authors :
Boldt, Karsten
Mans, Dorus A.
Won, Jungyeon
van Reeuwijk, Jeroen
Vogt, Andreas
Kinkl, Norbert
Letteboer, Stef J.F.
Hicks, Wanda L.
Hurd, Ron E.
Naggert, Jurgen K.
Texier, Yves
den Hollander, Anneke I.
Koenekoop, Robert K.
Bennett, Jean
Cremers, Frans P.M.
Gloeckner, Christian J.
Nishina, Patsy M.
Roepman, Ronald
Ueffing, Marius
Source :
Journal of Clinical Investigation. June, 2011, Vol. 121 Issue 6, p2169, 12 p.
Publication Year :
2011

Abstract

The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood blindness. To unravel the molecular basis of LCA, we analyzed how [...]

Details

Language :
English
ISSN :
00219738
Volume :
121
Issue :
6
Database :
Gale General OneFile
Journal :
Journal of Clinical Investigation
Publication Type :
Academic Journal
Accession number :
edsgcl.348997198
Full Text :
https://doi.org/10.1172/JCI45627