DELETERIOUS MUTATIONS IN SCN10A ARE ASSOCIATED WITH LONG QT SYNDROME

DELETERIOUS MUTATIONS IN SCN10A ARE ASSOCIATED WITH LONG QT SYNDROME

In silico analysis, tissue-specific expression, and review of public genetic databases were performed in search for damaging mutations. 2,000 control exomes were also used for allele frequencies.

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Veröffentlicht in:Journal of the American College of Cardiology 2017-03, Vol.69 (11), p.509-509
Hauptverfasser: Ziki, Maen D. Abou, Seidelmann, Sara, Smith, Emily, Narayanan, Anand, Atteya, Gourg, Jiang, Yuexin, Gil-Fernandez, Rodolfo, Marieb, Mark, Akar, Joseph, Mani, Arya
Format: Artikel
Sprache:eng
Schlagworte:
Cardiology
Cardiovascular
Internal Medicine
Long QT syndrome
Mutation
Sodium
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Beschreibung
Zusammenfassung:In silico analysis, tissue-specific expression, and review of public genetic databases were performed in search for damaging mutations. 2,000 control exomes were also used for allele frequencies.
ISSN:0735-1097
1558-3597
DOI:10.1016/S0735-1097(17)33898-6