Article
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Electrophoresis - 1 Dec 2007
Brinckmann Anja, Mischung Claudia, Bässmann Ingelore, Kühnisch Jirko, Schuelke Markus, Tinschert Sigrid, Nürnberg Peter
Abstract excerpt
Neurofibromatosis type 1 (NF1) is caused by mutations in the neurofibromin (NF1) gene. Mutation analysis of NF1 is complicated by its large size, the lack of mutation hotspots, pseudogenes and frequent de novo mutations. Additionally, the search for NF1 mutations on the mRNA level is often hampered by nonsense-mediated mRNA decay (NMD) of the mutant allele. In this study we searched for mutations in a cohort of...
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