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Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jer...

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jer...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3ec6d602619d480587115e5323497c66

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome

About this item

Full title

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome

Publisher

England: BioMed Central Ltd

Journal title

BMC cardiovascular disorders, 2023-08, Vol.23 (1), p.399-399, Article 399

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Long QT syndrome (LQTS) is one of the primary causes of sudden cardiac death (SCD) in youth. Studies have identified mutations in ion channel genes as key players in the pathogenesis of LQTS. However, the specific etiology in individual families remains unknown.
Three unrelated Chinese pedigrees diagnosed with LQTS or Jervell and Lange-Nielsen s...

Alternative Titles

Full title

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_3ec6d602619d480587115e5323497c66

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3ec6d602619d480587115e5323497c66

Other Identifiers

ISSN

1471-2261

E-ISSN

1471-2261

DOI

10.1186/s12872-023-03417-2

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