The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), an autosomal-dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement. We screened 112 ARVC/D probands for mutations in...

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Veröffentlicht in:	European journal of human genetics : EJHG 2010-07, Vol.18 (7), p.776-782
Hauptverfasser:	De Bortoli, Marzia, Beffagna, Giorgia, Bauce, Barbara, Lorenzon, Alessandra, Smaniotto, Gessica, Rigato, Ilaria, Calore, Martina, Li Mura, Ilena E A, Basso, Cristina, Thiene, Gaetano, Lanfranchi, Gerolamo, Danieli, Gian Antonio, Nava, Andrea, Rampazzo, Alessandra
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/737 692/699/75/74 Alternative Splicing - genetics Amino Acid Sequence Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Arrhythmogenic Right Ventricular Dysplasia - genetics Atrophy Base Sequence Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cardiology Cardiomyopathy Cell Line Chromosomes Cytogenetics Cytoplasm Desmocollin Desmocollins - chemistry Desmocollins - genetics Desmocollins - metabolism DNA Mutational Analysis Dysplasia Electrocardiography Emergency and intensive care: neonates and children. Prematurity. Sudden death Female Frameshift Mutation - genetics Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genes Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Growth factors Haplotypes Haplotypes - genetics Heart Heterozygote Human Genetics Humans Intensive care medicine Isoforms Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Molecular Sequence Data Mutant Proteins - chemistry Mutant Proteins - genetics Mutant Proteins - metabolism Mutation Pedigree Protein Isoforms - chemistry Protein Isoforms - genetics Protein Isoforms - metabolism Task forces Variation Ventricle
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