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

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

Human genetics - 1 Sept 1997

van den Berg M H, Wilde A A, Robles de Medina E O, Meyer H, Geelen J L, Jongbloed R J, Wellens H J, Geraedts J P

Abstract excerpt

The Romano Ward long QT syndrome (LQTS) has an autosomal dominant mode of inheritance. Patients suffer from syncopal attacks often resulting in sudden cardiac death. The main diagnostic parameter is a prolonged QT(c) interval as judged by electro-cardiographic investigation. LQTS is a genetically heterogeneous disease with four loci having been identified to date: chromosome 11p15.5 (LQT1), 7q35-36 (LQT2),...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Genetic Linkage

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

Share to Long QT Syndrome

Share to Mutation

Share to Pedigree

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 9272155
DOI: 10.1007/s004390050516

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

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.PMID 9272155Read ↗

[Molecular genetics of the long QT syndrome: clinical aspects].Semantic proximity Read ↗

The long QT syndrome: ion channel diseases of the heart.Semantic proximity Read ↗

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.Semantic proximity Read ↗

The long QT syndromes: genetic basis and clinical implications.Semantic proximity Read ↗

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.Semantic proximity Read ↗

The genetic basis of long QT and short QT syndromes: a mutation update.Semantic proximity Read ↗

A Recessive Variant of the Romano-Ward Long-QT Syndrome?Semantic proximity Read ↗

Molecular genetics of long-QT syndrome.Semantic proximity Read ↗

Genetic and clinical advances in congenital long QT syndrome.Semantic proximity Read ↗

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.Semantic proximity Read ↗

Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome.Semantic proximity Read ↗

Long QT syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1.Semantic proximity Read ↗

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