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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Dades bibliogràfiques
Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2017
Matèries:
Research Report
Accés en línia: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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