PMID- 10208579
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20190718
IS  - 0959-4965 (Print)
IS  - 0959-4965 (Linking)
VI  - 10
IP  - 3
DP  - 1999 Feb 25
TI  - Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the
      presenilin-1 gene.
PG  - 503-7
AB  - Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of
      early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation
      detection method, chemical cleavage of mismatch, was used to detect a novel PS1
      mutation in the coding sequence of the PS1 gene. Sequencing confirmed a T to C
      transition altering a leucine to proline at codon 219 of the PS1 gene. This is a 
      novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane
      regions of IV and V.
FAU - Smith, M J
AU  - Smith MJ
AD  - Department of Pathology, The University of Melbourne, Parkville, Vic, Australia.
FAU - Gardner, R J
AU  - Gardner RJ
FAU - Knight, M A
AU  - Knight MA
FAU - Forrest, S M
AU  - Forrest SM
FAU - Beyreuther, K
AU  - Beyreuther K
FAU - Storey, E
AU  - Storey E
FAU - McLean, C A
AU  - McLean CA
FAU - Cotton, R G
AU  - Cotton RG
FAU - Cappal, R
AU  - Cappal R
FAU - Masters, C L
AU  - Masters CL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Neuroreport
JT  - Neuroreport
JID - 9100935
RN  - 0 (Codon)
RN  - 0 (Membrane Proteins)
RN  - 0 (PSEN1 protein, human)
RN  - 0 (Presenilin-1)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Age of Onset
MH  - Aged
MH  - Alzheimer Disease/*epidemiology/*genetics
MH  - Amino Acid Substitution
MH  - Codon/*genetics
MH  - DNA/genetics
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Female
MH  - Genome
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Mutation, Missense/*genetics
MH  - Polymerase Chain Reaction
MH  - Presenilin-1
EDAT- 1999/04/20 00:00
MHDA- 1999/04/20 00:01
CRDT- 1999/04/20 00:00
PHST- 1999/04/20 00:00 [pubmed]
PHST- 1999/04/20 00:01 [medline]
PHST- 1999/04/20 00:00 [entrez]
AID - 10.1097/00001756-199902250-00011 [doi]
PST - ppublish
SO  - Neuroreport. 1999 Feb 25;10(3):503-7. doi: 10.1097/00001756-199902250-00011.