Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. [electronic resource]
Producer: 20121029Description: 174-6 p. digitalISSN:- 1879-0038
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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