Brinckmann, Anja

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. [electronic resource] - Electrophoresis Dec 2007 - 4295-301 p. digital

Publication Type: Evaluation Study; Journal Article

0173-0835

10.1002/elps.200700118 doi


Alleles
Allelic Imbalance
B-Lymphocytes--chemistry
Base Sequence--genetics
Codon, Nonsense
Cohort Studies
DNA Mutational Analysis--instrumentation
Evaluation Studies as Topic
Exons
Frameshift Mutation
Genes, Neurofibromatosis 1
Genetic Testing--methods
Heteroduplex Analysis
Humans
Mutation--genetics
Mutation, Missense
Neurofibromin 1--genetics
RNA Splice Sites
RNA Stability
RNA, Messenger--genetics
Reverse Transcriptase Polymerase Chain Reaction