Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.
about
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 diseasesDesmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndromeComprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathyMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyMissense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotypeThe electrocardiographic manifestations of arrhythmogenic right ventricular dysplasiaDesmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.Rational diagnostic strategy for Zellweger syndrome spectrum patientsShared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.Role of cardiovascular magnetic resonance imaging in arrhythmogenic right ventricular dysplasiaDesmosomes: just cell adhesion or is there more?Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs.Modeling heart disease in a dish: from somatic cells to disease-relevant cardiomyocytes.Pathophysiology of arrhythmogenic cardiomyopathy.Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome.Science and practice of arrhythmogenic cardiomyopathy: A paradigm shift.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Desmosomes in the heart: a review of clinical and mechanistic analyses.Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy.Abnormalities in Alternative Splicing of Apoptotic Genes and Cardiovascular Diseases.Nature and Nurture in Arrhythmogenic Right Ventricular Cardiomyopathy - A Clinical PerspectiveClinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.
P2860
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P2860
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@ast
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@en
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@nl
type
label
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@ast
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@en
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@nl
prefLabel
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@ast
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@en
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@nl
P2093
P2860
P356
P1433
P1476
Recessive arrhythmogenic right ...... yptic splice mutation in PKP2.
@en
P2093
April Tucker
Crystal Tichnell
Cynthia James
Daniel P Judge
Darshan Dalal
Mark M Awad
Philip J Spevak
Theodore Abraham
P2860
P356
10.1002/HUMU.9461
P50
P577
2006-11-01T00:00:00Z