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
ISSN: 0173-0835
Standard No.: 10.1002/elps.200700118 doi
Subjects--Topical Terms: 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