Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing.

Fu, Lijun

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