Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy

Journal of Medical Genetics

Volumn 47, Issue 11, 2010, Pages 736-744

  Christensen, Alex Hørby ^a,b   Benn, M ^c   Bundgaard, H ^a   Tybjaerg Hansen A ^a   Haunso, S ^a,b,d   Svendsen, J H ^a,b,d  

^a Rigshospitalet   (Denmark)

^b DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 2; DESMOGLEIN 2; DESMOPLAKIN; PLAKOGLOBIN; PLAKOGLOBIN 2; TRANSFORMING GROWTH FACTOR BETA3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARVAJAL SYNDROME; CONSANGUINEOUS MARRIAGE; DENMARK; DESMOSOME; DNA POLYMORPHISM; ECG ABNORMALITY; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC CONSERVATION; GENETIC SCREENING; HAIR; HEART LEFT VENTRICLE; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PALMOPLANTAR KERATODERMA; PEDIGREE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SPLICING DEFECT;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BASE SEQUENCE; COHORT STUDIES; CONSANGUINITY; DENMARK; DESMOCOLLINS; DESMOGLEIN 2; DESMOPLAKINS; DESMOSOMES; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FAMILY HEALTH; FEMALE; GAMMA CATENIN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MUTATION; PEDIGREE; PLAKOPHILINS;

EID: 78149361865     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.077891     Document Type: Article

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