PMID- 10371548
OWN - NLM
STAT- MEDLINE
DCOM- 19990715
LR  - 20220408
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 52
IP  - 9
DP  - 1999 Jun 10
TI  - Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch
      patients. Dutch CADASIL Research Group.
PG  - 1913-5
AB  - To confirm the clinical diagnosis in individual Dutch patients with cerebral
      autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
      (CADASIL), we performed direct sequence analysis of the abnormal gene, Notch3, in
      patients from 11 families without prior linkage analysis to chromosome 19. Eleven
      missense mutations involving the loss or gain of a cysteine residue were found,
      of which 3 are new. Exon 4 is a mutation hotspot (9 of 11 families). Notch3
      sequence analysis of CADASIL patients in a diagnostic laboratory is a feasible
      procedure to confirm the clinical diagnosis in individual patients.
FAU - Oberstein, S A
AU  - Oberstein SA
AD  - Department of Clinical Genetics, Leiden University Medical Center, The
      Netherlands.
FAU - Ferrari, M D
AU  - Ferrari MD
FAU - Bakker, E
AU  - Bakker E
FAU - van Gestel, J
AU  - van Gestel J
FAU - Kneppers, A L
AU  - Kneppers AL
FAU - Frants, R R
AU  - Frants RR
FAU - Breuning, M H
AU  - Breuning MH
FAU - Haan, J
AU  - Haan J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
SB  - IM
MH  - Cerebral Arterial Diseases/*genetics
MH  - Cerebral Infarction/*genetics
MH  - Exons
MH  - Humans
MH  - Leukoencephalopathy, Progressive Multifocal/*genetics
MH  - Mutation
MH  - Netherlands
MH  - Polymorphism, Genetic
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - 10.1212/wnl.52.9.1913 [doi]
PST - ppublish
SO  - Neurology. 1999 Jun 10;52(9):1913-5. doi: 10.1212/wnl.52.9.1913.