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Article

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

American journal of human genetics - 1 Dec 1991

Collinge J, Poulter M, Davis M B, Baraitser M, Owen F, Crow T J, Harding A E

Abstract excerpt

The identification of defects in the prion protein (PrP) gene in families with inherited Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome allows presymptomatic diagnosis or exclusion of these disorders in subjects at risk. After counseling, PrP gene analysis was performed in three such individuals: two from families with a 144-bp insert and one with a point mutation at codon 102 in the PrP gene. The...

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Identifiers

PMID: 1684089
PMCID: PMC1686464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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