| 000 | 02174 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250516111826.0 | ||
| 264 | 0 | _c20130509 | |
| 008 | 201305s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2012-100868 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGuo, Bi-Rong | |
| 245 | 0 | 0 |
_aExome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cSep 2012 |
||
| 300 |
_a563-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAsian People _xgenetics |
| 650 | 0 | 4 | _aChina |
| 650 | 0 | 4 |
_aCollagen _xgenetics |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 |
_aGlycoproteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKeratoderma, Palmoplantar _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 700 | 1 | _aZhang, Xin | |
| 700 | 1 | _aChen, Gang | |
| 700 | 1 | _aZhang, Jian-Guo | |
| 700 | 1 | _aSun, Liang-Dan | |
| 700 | 1 | _aDu, Wei-Dong | |
| 700 | 1 | _aZhang, Qing | |
| 700 | 1 | _aCui, Yong | |
| 700 | 1 | _aZhu, Jun | |
| 700 | 1 | _aTang, Xian-Fa | |
| 700 | 1 | _aXiao, Ruo | |
| 700 | 1 | _aLiu, Yuan | |
| 700 | 1 | _aLi, Min | |
| 700 | 1 | _aTang, Hua-Yang | |
| 700 | 1 | _aYang, Xu | |
| 700 | 1 | _aCheng, Hui | |
| 700 | 1 | _aLi, Ming | |
| 700 | 1 | _aGao, Min | |
| 700 | 1 | _aLi, Ping | |
| 700 | 1 | _aWang, Jian-Bo | |
| 700 | 1 | _aXu, Feng-Ping | |
| 700 | 1 | _aZuo, Xian-Bo | |
| 700 | 1 | _aZheng, Xiao-Dong | |
| 700 | 1 | _aZhang, Xiao-Guang | |
| 700 | 1 | _aYang, Lin | |
| 700 | 1 | _aLiu, Jian-Jun | |
| 700 | 1 | _aWang, Jun | |
| 700 | 1 | _aYang, Sen | |
| 700 | 1 | _aZhang, Xue-Jun | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 49 _gno. 9 _gp. 563-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2012-100868 _zAvailable from publisher's website |
| 999 |
_c22100123 _d22100123 |
||