Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
Perrin
G
G
Cantonal Hospital, Geneva, Switzerland.
Morris
M A
MA
Antonarakis
S E
SE
Boltshauser
E
E
Hutter
P
P
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D015342:DNA Probes / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D017421:Sequence Analysis
D015342:DNA Probes; D025542:Neurofibromin 1; D011506:Proteins; D012333:RNA, Messenger