Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective...

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Vydáno v:	Clinical genetics Ročník 95; číslo 3; s. 356 - 367
Hlavní autoři:	Richard, Pascale, Ader, Flavie, Roux, Maguelonne, Donal, Erwan, Eicher, Jean‐Christophe, Aoutil, Nadia, Huttin, Olivier, Selton‐Suty, Christine, Coisne, Damien, Jondeau, Guillaume, Damy, Thibaud, Mansencal, Nicolas, Casalta, Anne‐Claire, Michel, Nicolas, Haentjens, Julie, Faivre, Laurence, Lavoute, Cecile, Nguyen, Karine, Tregouët, David‐Alexandre, Habib, Gilbert, Charron, Philippe
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Oxford, UK Blackwell Publishing Ltd 01.03.2019 Wiley
Témata:	Cardiology and cardiovascular system Cardiomyopathy Compaction Dilated cardiomyopathy Genetic counseling Genetics Genotypes Human genetics Human health and pathology Ion channels (cyclic nucleotide-gated) left ventricular non‐compaction Life Sciences molecular genetic Mutation next generation sequencing Phenotypes Populations and Evolution Ryanodine receptors Ventricle left ventricular non-compaction cardiomyopathy next generation sequencing molecular genetic
ISSN:	0009-9163, 1399-0004, 1399-0004
On-line přístup:	Získat plný text
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