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

Mutation in KCNQ1 that has both recessive and dominant characteristics.

Journal of medical genetics - 1 Sept 2002

Murray A, Potet F, Bellocq C, Baró I, Reardon W, Hughes H E, Jeffery S

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Fatal Outcome
Share to KCNQ Potassium Channels
Share to KCNQ1 Potassium Channel
Share to Long QT Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Potentials

Share to Patch-Clamp Techniques

Share to Potassium Channels

Share to Potassium Channels, Voltage-Gated

Source

Open in PubMed Open full text

Identifiers

PMID: 12205113
DOI: 10.1136/jmg.39.9.681
PMCID: PMC1735237

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in KCNQ1 that has both recessive and dominant characteristics.PMID 12205113Read ↗

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.Semantic proximity Read ↗

Exploring single nucleotide polymorphisms in the KCNQ1 gene associated with cardiac disordersSemantic proximity Read ↗

DFNA2/KCNQ4 and its manifestations.Semantic proximity Read ↗

MODY in China: two families carrying the KCNJ11 E229K variant.Semantic proximity Read ↗

Novel mutations of KCNQ1 in Long QT syndrome.Semantic proximity Read ↗

Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.Semantic proximity Read ↗

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.Semantic proximity Read ↗

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.Semantic proximity Read ↗

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.Semantic proximity Read ↗

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes.Semantic proximity Read ↗

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.Semantic proximity Read ↗

New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.Semantic proximity Read ↗

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