A new disease-causing mutation in the GAP-related domain of the NF1 gene.
Anglani
F
F
Laboratorio di Biologia Molecolare, Università di Padova, Italy.
Murgia
A
A
Bedin
S
S
Bresin
E
E
Bernardi
F
F
Clementi
M
M
Tenconi
R
R
D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D020690:GTPase-Activating Proteins; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
D020690:GTPase-Activating Proteins; D011506:Proteins; D004247:DNA