Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation analysis in patients with possible but apparently sporadic Huntington's disease.

Lancet (London, England) - 10 Sept 1994

Davis M B, Bateman D, Quinn N P, Marsden C D, Harding A E

Abstract excerpt

Until the advent of mutation analysis it was impossible to make a certain diagnosis of Huntington's disease (HD) in the absence of a positive family history, and sporadic cases of possible HD presented a substantial diagnostic dilemma. We have looked for the characteristic expanded trinucleotide...

Topics

Adult
Aged
Alleles
Chromosomes, Human, Pair 4
DNA
DNA Mutational Analysis
Humans
Huntington Disease
Middle Aged
Molecular Biology
Mutation
Oligonucleotides
Repetitive Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7915776
DOI: 10.1016/s0140-6736(94)92208-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7915776-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis in patients with possible but apparently sporadic Huntington's disease.PMID 7915776Read ↗

Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease.Semantic proximity Read ↗

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype.Semantic proximity Read ↗

Patients with features similar to Huntington's disease, without CAG expansion in huntingtin.Semantic proximity Read ↗

Molecular detection of new mutations, resolution of ambiguous results and complex genetic counseling issues in Huntington disease.Semantic proximity Read ↗

Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.Semantic proximity Read ↗

Diagnosis of "sporadic" Huntington's disease.Semantic proximity Read ↗

Expansion of a (CAG)n repeat region in a sporadic case of HD.Semantic proximity Read ↗

Molecular analysis and clinical correlations of the Huntington's disease mutation.Semantic proximity Read ↗

Trinucleotide repeat analysis of Huntington's disease gene in Singapore.Semantic proximity Read ↗

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.Semantic proximity Read ↗

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients.Semantic proximity Read ↗

Trinucleotide (CAG) repeat expansion in chromosomes of Spanish patients with Huntington's disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.