Chen, Xiao-Ling

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