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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Cold Spring Harb Mol Case Stud
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Cold Spring Harbor Laboratory Press 2017
נושאים:
Research Report
גישה מקוונת: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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