TY  - GEN
AU  - Bianchi,Silvia
AU  - Dotti,Maria Teresa
AU  - Gallus,Gian Nicola
AU  - D'Eramo,Camilla
AU  - Di Donato,Ilaria
AU  - Bernardi,Livia
AU  - Maletta,Raffaele
AU  - Puccio,Gianfranco
AU  - Bruni,Amalia C
AU  - Federico,Antonio
TI  - First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
SN  - 1558-1497
PY  - 2014///0117
KW  - Age of Onset
KW  - Aged
KW  - Alternative Splicing
KW  - genetics
KW  - CADASIL
KW  - Cysteine
KW  - DNA
KW  - Fatal Outcome
KW  - Female
KW  - Genome, Human
KW  - Humans
KW  - Introns
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Receptor, Notch3
KW  - Receptors, Notch
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.neurobiolaging.2013.03.005
ER  -