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Article

Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes.

The International journal of neuroscience - 1 Feb 2005

Keckarević Milica, Savić Dusanka, Svetel Marina, Kostić Vladimir, Vukosavić Slobodanka, Romac Stanka

Abstract excerpt

Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative disease caused by CAG repeat expansions in HD gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence of mutations in prion (PrP), ferritin and junctophilin-3 (JP-3)...

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Source

Identifiers

PMID: 15764008
DOI: 10.1080/00207450590519571

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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