TY  - GEN
AU  - Chen,Xiao-Ling
AU  - Zhao,Yan
AU  - Ke,Hai-Ping
AU  - Liu,Wen-Ting
AU  - Du,Zhen-Fang
AU  - Zhang,Xian-Ning
TI  - Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease
SN  - 1879-0038
PY  - 2012///1029
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Asian People
KW  - genetics
KW  - Base Sequence
KW  - China
KW  - DNA
KW  - Female
KW  - Frameshift Mutation
KW  - Glycogen Storage Disease Type IIb
KW  - Heterozygote
KW  - Humans
KW  - Lysosomal-Associated Membrane Protein 2
KW  - Lysosomal Membrane Proteins
KW  - Male
KW  - Molecular Sequence Data
KW  - Mosaicism
KW  - X Chromosome Inactivation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.gene.2012.06.064
ER  -