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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書誌詳細
出版年:Cold Spring Harb Mol Case Stud
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2017
主題:
Research Report
オンライン･アクセス: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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