Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. [electronic resource]
- Gene Oct 2012
- 174-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2012.06.064 doi
Adolescent Amino Acid Sequence Asian People--genetics Base Sequence China DNA--genetics Female Frameshift Mutation Glycogen Storage Disease Type IIb--genetics Heterozygote Humans Lysosomal-Associated Membrane Protein 2 Lysosomal Membrane Proteins--genetics Male Molecular Sequence Data Mosaicism X Chromosome Inactivation