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Article

Allele-specific sequencing confirms novel prion gene polymorphism in Creutzfeldt-Jakob disease.

Neurology - 1 Oct 1991

Fink J K, Warren J T, Drury I, Murman D, Peacock M L

Abstract excerpt

We analyzed the prion protein coding sequence in a familial Creutzfeldt-Jakob disease patient who did not have any of the currently recognized prion protein mutations. Denaturing gradient gel electrophoresis indicated that the prion protein coding sequence was heterozygous at least one location. We isolated each allele by denaturing gradient gel electrophoresis and directly sequenced. We found a DNA polymorphism...

Topics

Adult
Alleles
Amino Acid Sequence
Creutzfeldt-Jakob Syndrome
Electrophoresis
Humans
Male
Molecular Sequence Data
Polymorphism, Genetic
Prions

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Identifiers

PMID: 1922809
DOI: 10.1212/wnl.41.10.1647

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1922809-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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