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

Triplet repeat primed PCR simplifies testing for Huntington disease.

The Journal of molecular diagnostics : JMD - 1 Mar 2013

Jama Mohamed, Millson Alison, Miller Christine E, Lyon Elaine

Abstract excerpt

Diagnostic and predictive testing for Huntington disease (HD) requires an accurate determination of the number of CAG repeats in the Huntingtin (HHT) gene. Currently, when a sample appears to be homozygous for a normal allele, additional testing is required to confirm amplification from both alleles. If the sample still appears homozygous, Southern blot analysis is performed to rule out an undetected expanded HTT...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to Computational Biology

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

Share to HTT gene

Share to Huntington Disease

Share to Polymerase Chain Reaction

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 23414820
DOI: 10.1016/j.jmoldx.2012.09.005

Genes

HTT

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

Triplet repeat primed PCR simplifies testing for Huntington disease.PMID 23414820Read ↗

Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay.Semantic proximity Read ↗

Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.Semantic proximity Read ↗

A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington's Disease Symptoms.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 ↗

Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci.Semantic proximity Read ↗

Single-step scalable-throughput molecular screening for Huntington disease.Semantic proximity Read ↗

Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis.Semantic proximity Read ↗

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.Semantic proximity Read ↗

Challenges facing genetic diagnostics of Huntington's disease: an update.Semantic proximity Read ↗

Advances in Huntington's disease diagnostics: development of a standard reference material.Semantic proximity Read ↗

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.Semantic proximity Read ↗

Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles.Semantic proximity Read ↗

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