Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics
Work
Year: 2007
Type: article
Abstract: Many human diseases, including Fanconi anemia, hemophilia B, neurofibromatosis, and phenylketonuria, can be caused by 5′-splice-site (5′ss) mutations that are not predicted to disrupt splicing, accord... more
Source: Genome Research
Institutions Cold Spring Harbor Laboratory, University of Oslo, Norwegian Cancer Society, Aarhus University, Aarhus University Hospital
Cites: 57
Cited by: 88
Related to: 10
FWCI: 2.643
Citation percentile (by year/subfield): 93.85
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid