| 000 | 01513 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516101130.0 | ||
| 264 | 0 | _c20121029 | |
| 008 | 201210s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2012.06.064 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aChen, Xiao-Ling | |
| 245 | 0 | 0 |
_aDetection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease. _h[electronic resource] |
| 260 |
_bGene _cOct 2012 |
||
| 300 |
_a174-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAsian People _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChina |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aGlycogen Storage Disease Type IIb _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLysosomal-Associated Membrane Protein 2 |
| 650 | 0 | 4 |
_aLysosomal Membrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aX Chromosome Inactivation |
| 700 | 1 | _aZhao, Yan | |
| 700 | 1 | _aKe, Hai-Ping | |
| 700 | 1 | _aLiu, Wen-Ting | |
| 700 | 1 | _aDu, Zhen-Fang | |
| 700 | 1 | _aZhang, Xian-Ning | |
| 773 | 0 |
_tGene _gvol. 507 _gno. 2 _gp. 174-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2012.06.064 _zAvailable from publisher's website |
| 999 |
_c21910273 _d21910273 |
||