Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.
Hutter
P
P
Division of Medical Genetics, University Medical Centre, Geneva, Switzerland.
Antonarakis
S E
SE
Delozier-Blanchet
C D
CD
Morris
M A
MA
D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing
D018076:DNA, Complementary