Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
Hum Genet
.
2010 Apr;127(4):474.
Authors
A del Río-Espínola
1
,
I Fernández-Cadenas
,
M Mendióroz
,
M Gutiérrez-Agulló
,
M T Fernández
,
J Fernández-Morales
,
O Maisterra
,
S Domingues-Montanari
,
V García-Patos
,
E Solé
,
J Montaner
Affiliation
1
Neurology Department, Universitat Autònoma de Barcelona, Vall d'Hebrón Hospital, Barcelona, Spain.
[email protected]
PMID:
21488300
No abstract available
MeSH terms
Amino Acid Substitution
CADASIL / genetics*
Codon / genetics
Humans
Mutation, Missense
Receptor, Notch3
Receptors, Notch / genetics*
Substances
Codon
NOTCH3 protein, human
Receptor, Notch3
Receptors, Notch