Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
about
Arrhythmogenic cardiomyopathyStop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology.Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.Almanac 2014: cardiomyopathies.Desmosomes in the heart: a review of clinical and mechanistic analyses.Arrhythmogenic cardiomyopathy: a disease of intercalated discs.Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasiaCardiomyocytes of the Heart and Pulmonary Veins: Novel Contributors to Asthma?Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion.Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy.
P2860
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P2860
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@ast
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@en
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@nl
type
label
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@ast
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@en
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@nl
prefLabel
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@ast
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@en
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@nl
P2093
P2860
P50
P3181
P356
P1476
Identification of a PKP2 gene ...... ght ventricular cardiomyopathy
@en
P2093
Andrea Nava
Carlo Nobile
Emanuela Dazzo
Giovanni Vazza
Ilena Egle Astrid Li Mura
Luciano Daliento
Manuela Fanciulli
Maria Luisa Mostacciuolo
P2860
P2888
P304
P3181
P356
10.1038/EJHG.2013.39
P407
P50
P577
2013-11-01T00:00:00Z