PMID- 2111584
OWN - NLM
STAT- MEDLINE
DCOM- 19900626
LR  - 20190618
IS  - 0036-8075 (Print)
IS  - 0036-8075 (Linking)
VI  - 248
IP  - 4959
DP  - 1990 Jun 1
TI  - Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral 
      hemorrhage, Dutch type.
PG  - 1124-6
AB  - An amyloid protein that precipitates in the cerebral vessel walls of Dutch 
      patients with hereditary cerebral hemorrhage with amyloidosis is similar to the 
      amyloid protein in vessel walls and senile plaques in brains of patients with 
      Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. 
      Cloning and sequencing of the two exons that encode the amyloid protein from two 
      patients with this amyloidosis revealed a cytosine-to-guanine transversion, a 
      mutation that caused a single amino acid substitution (glutamine instead of 
      glutamic acid) at position 22 of the amyloid protein. The mutation may account 
      for the deposition of this amyloid protein in the cerebral vessel walls of these 
      patients, leading to cerebral hemorrhages and premature death.
FAU - Levy, E
AU  - Levy E
AD  - Department of Pathology, New York University Medical Center, NY 10016.
FAU - Carman, M D
AU  - Carman MD
FAU - Fernandez-Madrid, I J
AU  - Fernandez-Madrid IJ
FAU - Power, M D
AU  - Power MD
FAU - Lieberburg, I
AU  - Lieberburg I
FAU - van Duinen, S G
AU  - van Duinen SG
FAU - Bots, G T
AU  - Bots GT
FAU - Luyendijk, W
AU  - Luyendijk W
FAU - Frangione, B
AU  - Frangione B
LA  - eng
SI  - GENBANK/M37895
SI  - GENBANK/M37896
GR  - AG 05891/AG/NIA NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (Amyloid)
RN  - 0 (Amyloid beta-Protein Precursor)
RN  - 0 (Protein Precursors)
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.21.- (endodeoxyribonuclease MboII)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Alleles
MH  - Alzheimer Disease/*genetics
MH  - Amino Acid Sequence
MH  - Amyloid/*genetics
MH  - Amyloid beta-Protein Precursor
MH  - Amyloidosis/complications/*genetics
MH  - Base Sequence
MH  - Brain Chemistry
MH  - Cerebral Hemorrhage/etiology/*genetics
MH  - Cerebrovascular Disorders/complications/*genetics
MH  - DNA
MH  - Deoxyribonucleases, Type II Site-Specific
MH  - Exons
MH  - Female
MH  - Genes, Dominant
MH  - Humans
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Netherlands
MH  - Polymerase Chain Reaction
MH  - Protein Precursors/*genetics
EDAT- 1990/06/01 00:00
MHDA- 1990/06/01 00:01
CRDT- 1990/06/01 00:00
PHST- 1990/06/01 00:00 [pubmed]
PHST- 1990/06/01 00:01 [medline]
PHST- 1990/06/01 00:00 [entrez]
AID - 10.1126/science.2111584 [doi]
PST - ppublish
SO  - Science. 1990 Jun 1;248(4959):1124-6. doi: 10.1126/science.2111584.