Discover Community Create You

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

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.

The New England journal of medicine - 19 May 1994

Kremer B, Goldberg P, Andrew S E, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E

Abstract excerpt

BACKGROUND: Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of expanded CAG repeats in affected persons of different ethnic origins nor the specificity of such repeats for Huntington's disease as compared with other neuropsychiatric disorders has been determined. METHODS: We studied 1007 patients with diagnosed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Oligodeoxyribonucleotides

Share to Polymorphism, Genetic

Share to Repetitive Sequences, Nucleic Acid

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 8159192
DOI: 10.1056/NEJM199405193302001

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.PMID 8159192Read ↗

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansionSemantic proximity Read ↗

A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.Semantic proximity Read ↗

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.Semantic proximity Read ↗

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.Semantic proximity Read ↗

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern ColombiaSemantic proximity Read ↗

Huntington disease.Semantic proximity Read ↗

Uncovering the Genetic and Molecular Features of Huntington's Disease in Northern Colombia.Semantic proximity Read ↗

Multiple clinical features of Huntington’s disease correlate with mutant HTT gene CAG repeat lengths and neurodegenerationSemantic proximity Read ↗

Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.Semantic proximity Read ↗

Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea.Semantic proximity Read ↗

Huntington's Disease with Small CAG Repeat Expansions.Semantic proximity Read ↗

Epidemiology of Huntington disease.Semantic proximity Read ↗

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