Ontology highlight
ABSTRACT:
SUBMITTER: Gremer L
PROVIDER: S-EPMC3117284 | biostudies-literature | 2011 Jan
REPOSITORIES: biostudies-literature
Gremer Lothar L Merbitz-Zahradnik Torsten T Dvorsky Radovan R Cirstea Ion C IC Kratz Christian Peter CP Zenker Martin M Wittinghofer Alfred A Ahmadian Mohammad Reza MR
Human mutation 20101209 1
The KRAS gene is the most common locus for somatic gain-of-function mutations in human cancer. Germline KRAS mutations were shown recently to be associated with developmental disorders, including Noonan syndrome (NS), cardio-facio-cutaneous syndrome (CFCS), and Costello syndrome (CS). The molecular basis of this broad phenotypic variability has in part remained elusive so far. Here, we comprehensively analyzed the biochemical and structural features of ten germline KRAS mutations using physical ...[more]