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Article

Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

Nature genetics - 1 Nov 1997

Splawski I, Tristani-Firouzi M, Lehmann M H, Sanguinetti M C, Keating M T

Abstract excerpt

Ion-channel beta-subunits are ancillary proteins that co-assemble with alpha-subunits to modulate the gating kinetics and enhance stability of multimeric channel complexes. Despite their functional importance, dysfunction of potassium-channel beta-subunits has not been associated with disease. Re...

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Amino Acid Sequence
Electrophysiology
Molecular Sequence Data
Mutation
Oocytes
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Recombinant Proteins

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Identifiers

PMID: 9354802
DOI: 10.1038/ng1197-338

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9354802-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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