Differential expression of normal and mutant Huntington's disease gene alleles.

doi:10.1006/nbdi.1996.0018

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Article

Differential expression of normal and mutant Huntington's disease gene alleles.

Neurobiology of disease - 1 Jan 1996

Persichetti F, Carlee L, Faber P W, McNeil S M, Ambrose C M, Srinidhi J, Anderson M, Barnes G T, Gusella J F, MacDonald M E

Abstract excerpt

Huntingtin expression was examined by Western blot and immunoprecipitation studies of lymphoblastoid cell lines from Huntington's disease (HD) homozygotes, heterozygotes, and a phenotypically normal individual with a t(4p16.3;12p13.3) breakpoint in the HD gene. The latter produced a reduced level...

Topics

Adult
Age of Onset
Alleles
Blotting, Western
Child
Humans
Huntingtin Protein
Huntington Disease
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Nuclear Proteins
Precipitin Tests
Reference Values
Translocation, Genetic

Source

Open in PubMed

Identifiers

PMID: 8980018
DOI: 10.1006/nbdi.1996.0018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8980018-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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