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- Title
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.
- Authors
Drivas, Theodore G.; Wojno, Adam P.; Tucker, Budd A.; Stone, Edwin M.; Bennett, Jean
- Abstract
The article focuses findings of a study on relation between basal exon skipping and genetic pleiotropy. It states that mutations in the centrosomal protein of 290 kDa gene are associated with a spectrum of phenotypically distinct human disease, and mentions that basal exon skipping may be the mechanism underlying the disease pleiotropy caused by CEP290 mutations. It infers phenotypic diversity of two different inherited ciliopathies and possibilities of a new model for the pathogenesis.
- Subjects
GENETIC pleiotropy; EXONS (Genetics); GENETIC mutation; PHENOTYPES; GENE expression
- Publication
Science Translational Medicine, 2015, Vol 7, Issue 291, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aaa5370