Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.
Joutel
A
A
INSERM U25, Faculté de Médecine Necker-Enfants Malades, Paris, France.
Chabriat
H
H
Vahedi
K
K
Domenga
V
V
Vayssière
C
C
Ruchoux
M M
MM
Lucas
C
C
Leys
D
D
Bousser
M G
MG
Tournier-Lasserve
E
E
D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D000596:Amino Acids / Q000235:genetics*; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D015161:Dementia, Multi-Infarct / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch
D000596:Amino Acids; C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch