Open AccessBasel exon skipping - a novel model of disease pathogenesis to explain CEP290-associated retinal degeneration and related ciliopathies
Author(s) -
Adam Wojno,
Theodore G. Drivas,
Budd Tucker,
Edwin M Stone,
Jean Bennett
Publication year - 2014
Publication title -
journal of vision
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.126
H-Index - 113
ISSN - 1534-7362
DOI - 10.1167/14.15.85
Subject(s) - ciliopathies , joubert syndrome , genetics , retinal degeneration , bardet–biedl syndrome , cilium , nephronophthisis , biology , exon , disease , phenotype , mutation , gene , medicine , pathology