Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing. [electronic resource]
Producer: 20170524Description: 888-894 p. digitalISSN:- 1879-1913
- 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
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.