Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. [electronic resource]
Producer: 20080220Description: 4295-301 p. digitalISSN:- 0173-0835
- 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
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Publication Type: Evaluation Study; Journal Article
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