Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.

Boczek, Nicole J

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. [electronic resource] - Circulation. Cardiovascular genetics Jun 2013 - 279-89 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1942-3268

10.1161/CIRCGENETICS.113.000138 doi


Adolescent
Adult
Base Sequence
Calcium Channels, L-Type--genetics
Cohort Studies
DNA Mutational Analysis
Exome
Female
Genes, Dominant
Humans
Long QT Syndrome--genetics
Male
Middle Aged
Molecular Sequence Data
Mutation, Missense
Pedigree
Young Adult