TY  - GEN
AU  - Brinckmann,Anja
AU  - Mischung,Claudia
AU  - Bässmann,Ingelore
AU  - Kühnisch,Jirko
AU  - Schuelke,Markus
AU  - Tinschert,Sigrid
AU  - Nürnberg,Peter
TI  - Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing
SN  - 0173-0835
PY  - 2008///0220
KW  - Alleles
KW  - Allelic Imbalance
KW  - B-Lymphocytes
KW  - chemistry
KW  - Base Sequence
KW  - genetics
KW  - Codon, Nonsense
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - instrumentation
KW  - Evaluation Studies as Topic
KW  - Exons
KW  - Frameshift Mutation
KW  - Genes, Neurofibromatosis 1
KW  - Genetic Testing
KW  - methods
KW  - Heteroduplex Analysis
KW  - Humans
KW  - Mutation
KW  - Mutation, Missense
KW  - Neurofibromin 1
KW  - RNA Splice Sites
KW  - RNA Stability
KW  - RNA, Messenger
KW  - Reverse Transcriptase Polymerase Chain Reaction
N1  - Publication Type: Evaluation Study; Journal Article
UR  - https://doi.org/10.1002/elps.200700118
ER  -