ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

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 a...

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Dettagli Bibliografici
Pubblicato in:Cold Spring Harb Mol Case Stud
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2017
Soggetti:
Research Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593152/
https://ncbi.nlm.nih.gov/pubmed/28630369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001859
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