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Cited by 1,127

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease

Murrell, Jill, Farlow, Martin, Ghetti, Bernardino, Benson, Merrill D.·1991·Science
DOI 10.1126/science.1925564
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Abstract

Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia.

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Show all 3 references

Research works printed but not linked: 23

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Metadata

Authors
Murrell, J., Farlow, M., Ghetti, B., & Benson, M. D.
Venue
Science
Publisher
American Association for the Advancement of Science (AAAS)
Published
1991-10-04
Volume
254
Issue
5028
Pages
97-99
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
DOI
10.1126/science.1925564
OpenAlex
W2024363942
Cited by
1,127
References
3
FWCI
67.39
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease. https://app.cochat.ai/papers/10.1126/science.1925564
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Murrell, J., Farlow, M., Ghetti, B., & Benson, M. D. (1991). A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease. Science. https://doi.org/10.1126/science.1925564

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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