Article
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
Cold Spring Harbor molecular case studies - 1 Sept 2017
Çağlayan Ahmet Okay, Sezer Rabia Gonul, Kaymakçalan Hande, Ulgen Ege, Yavuz Taner, Baranoski Jacob F, Bozaykut Abdulkadir, Harmanci Akdes Serin, Yalcin Yalim, Youngblood Mark W, Yasuno Katsuhito, Bilgüvar Kaya, Gunel Murat
Abstract excerpt
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and as a high-throughput discovery...
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