A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
Purandare
S M
SM
Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, Scotland, U.K.
Davidson
H R
HR
Lanyon
W G
WG
Connor
J M
JM
D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics
D025542:Neurofibromin 1; D009692:Nucleic Acid Heteroduplexes; D011506:Proteins; D004247:DNA