Gene symbol: NOTCH3. Disease: CADASIL

Hum Genet. 2005 Dec;118(3-4):535.

Authors

S Bianchi¹, O Scali, M T Dotti, L Pantoni, L Parnetti, D Inzitari, A Federico

Affiliation

¹ Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy. [email protected]

PMID: 16521242

No abstract available

MeSH terms

Amino Acid Substitution
CADASIL / genetics*
Codon, Nonsense
DNA Mutational Analysis
Humans
Mutation, Missense*
Receptor, Notch3
Receptors, Notch / genetics*

Substances

Codon, Nonsense
NOTCH3 protein, human
Receptor, Notch3
Receptors, Notch