title: Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.
authors.affiliation: INSERM U25, Faculté de Médecine Necker-Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Joutel
authors.forename: H
authors.initials: H
authors.lastname: Chabriat
authors.forename: K
authors.initials: K
authors.lastname: Vahedi
authors.forename: V
authors.initials: V
authors.lastname: Domenga
authors.forename: C
authors.initials: C
authors.lastname: Vayssière
authors.forename: M M
authors.initials: MM
authors.lastname: Ruchoux
authors.forename: C
authors.initials: C
authors.lastname: Lucas
authors.forename: D
authors.initials: D
authors.lastname: Leys
authors.forename: M G
authors.initials: MG
authors.lastname: Bousser
authors.forename: E
authors.initials: E
authors.lastname: Tournier-Lasserve
mesh_terms: 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
chemical_list: D000596:Amino Acids; C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch