Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference88 articles.
1. Confirmation of the arginine-finger hypothesis for the GAP-stimulated GTP-hydrolysis reaction of Ras;Ahmadian;Nat Struct Biol,1997
2. A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene;Ars;Am J Hum Genet,1998
3. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1;Ars;Hum Mol Genet,2000
4. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients;Ars;J Med Genet,2003
5. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity;Ball;Hum Mutat,2005
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