A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D.

scientific article

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.14196/MJIRI.32.5
P932PMC publication ID6025913
P698PubMed publication ID29977873

P2093author name stringMajid Maleki
Nejat Mahdieh
Bahareh Rabbani
Sedigheh Saedi
Mahdieh Soveizi
Nasim Najafi
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Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathyQ28299300
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Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathyQ28304094
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Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force CriteriaQ33764619
Modifier genes convert "simple" Mendelian disorders to complex traitsQ34043025
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International SQ34727600
Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challengesQ34780116
Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.Q37259910
Modifier genes in Mendelian disorders: the example of cystic fibrosisQ37822861
High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 geneQ50437457
A meta-analysis of nonsense mutations causing human genetic disease.Q53037787
Familial Evaluation in Arrhythmogenic Right Ventricular CardiomyopathyQ57901803
Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.Q64882062
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.Q64934138
P304page(s)5
P577publication date2018-02-06
P1433published inMedical Journal of the Islamic Republic of IranQ15761342
P1476titleA novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
P478volume32

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Q56980546Intercalated discs: cellular adhesion and signaling in heart health and diseasescites workP2860