Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. [electronic resource]
- The American journal of cardiology 09 2016
- 888-894 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1879-1913
10.1016/j.amjcard.2016.06.037 doi
Adolescent Age of Onset Blotting, Western Cardiomyopathy, Dilated--genetics Cardiomyopathy, Hypertrophic--genetics Case-Control Studies Child Child, Preschool Codon, Nonsense Female Fluorescent Antibody Technique Genotype Glycogen Storage Disease Type IIb--genetics High-Throughput Nucleotide Sequencing Humans Infant Lysosomal-Associated Membrane Protein 2--genetics Male Muscle, Skeletal--metabolism Mutation Myocardium--metabolism Phenotype Sequence Analysis, DNA Wolff-Parkinson-White Syndrome--genetics