Disease-associated mutations in conserved residues of ALK-1 kinase domain
β Scribed by Abdalla, Salma A; Cymerman, Urszula; Johnson, Rachel M; Deber, Charles M; Letarte, Michelle
- Book ID
- 110025338
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 524 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by A. Jaimie Cuticchia A large number of disease-causing mutations have been identified from several protein kinases. KinMutBase is a comprehensive knowledge base for human disease-related mutations in protein kinase domains (http:// bioinf.uta.fi/KinMutBase/). The latest version co
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). These v