Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.

Fouillade, Charles

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain. [electronic resource] - Human mutation Mar 2008 - 452 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

1098-1004

10.1002/humu.9527 doi


Amino Acid Substitution
Animals
CADASIL--genetics
Dimerization
Female
Heterozygote
Humans
Mice
Middle Aged
Mutation, Missense
NIH 3T3 Cells
Protein Structure, Quaternary
Receptor, Notch3
Receptors, Notch--chemistry
Recombinant Proteins--chemistry
Transfection