Article
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
Circulation. Cardiovascular genetics - 1 Jun 2017
Haskell Gloria T, Jensen Brian C, Samsa Leigh Ann, Marchuk Daniel, Huang Wei, Skrzynia Cecile, Tilley Christian, Seifert Bryce A, Rivera-Muñoz Edgar A, Koller Beverly, Wilhelmsen Kirk C, Liu Jiandong, Alhosaini Hassan, Weck Karen E, Evans James P, Berg Jonathan S
Abstract excerpt
BACKGROUND: The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. METHODS AND RESULTS: We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease genes identified pathogenic...
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