PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)

PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)

Item
http://www.wikidata.org/entity/Q28251131
Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseasesMissense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotypeCardiac sarcoidosis with severe involvement of the right ventricle: a case report.Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome.Desmosomes in the heart: a review of clinical and mechanistic analyses.A comparison of genetic findings in sudden cardiac death victims and cardiac patients: the importance of phenotypic classification.Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.Quantitative Immunohistochemistry of Desmosomal Proteins (Plakoglobin, Desmoplakin and Plakophilin), Connexin-43, and N-cadherin in Arrhythmogenic Cardiomyopathy: An Autopsy Study.Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.Identification of arrhythmogenic right ventricular cardiomyopathy-causing gene mutations in young sudden unexpected death autopsy cases.Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implicationsRecent Developments in the Genetics of Cardiomyopathies
P2860

PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA)

Item
http://www.wikidata.org/entity/Q28251131
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@ast
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@en
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@nl
type
label
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@ast
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@en
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@nl
prefLabel
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@ast
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@en
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
PKP2 mutations in sudden death ...... with negative autopsy (SUDNA)
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P921