Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). [electronic resource]
- Human molecular genetics Feb 2001
- 189-94 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/10.3.189 doi
Amino Acid Sequence Arrhythmogenic Right Ventricular Dysplasia--genetics Base Sequence Chromosome Mapping Chromosomes, Human, Pair 1--genetics DNA--chemistry DNA Mutational Analysis Family Health Female Genetic Predisposition to Disease--genetics Humans Male Molecular Sequence Data Mutation Mutation, Missense Myocardium--metabolism Pedigree Polymorphism, Single-Stranded Conformational Ryanodine Receptor Calcium Release Channel--genetics Sequence Alignment Sequence Homology, Amino Acid