Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL

Hum Genet. 2007 Dec;122(5):558.

Authors

Silvia Bianchi¹, M T Dotti, A Perretti, A De Rosa, F Manganelli, A Federico

Affiliation

¹ Dept. Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy. [email protected]

PMID: 18386330

No abstract available

MeSH terms

Amino Acid Substitution
CADASIL / genetics*
Codon / genetics
Female
Humans
Middle Aged
Mutation, Missense*
Receptor, Notch3
Receptors, Notch / metabolism*

Substances

Codon
NOTCH3 protein, human
Receptor, Notch3
Receptors, Notch