000 | 01890 a2200649 4500 | ||
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005 | 20250516120005.0 | ||
264 | 0 | _c20130613 | |
008 | 201306s 0 0 eng d | ||
022 | _a1468-6244 | ||
024 | 7 |
_a10.1136/jmedgenet-2012-101134 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aZhang, Xin | |
245 | 0 | 0 |
_aExome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. _h[electronic resource] |
260 |
_bJournal of medical genetics _cDec 2012 |
||
300 |
_a727-30 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aExome |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHypotrichosis _xcongenital |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aPedigree |
700 | 1 | _aGuo, Bi-Rong | |
700 | 1 | _aCai, Li-Qiong | |
700 | 1 | _aJiang, Tao | |
700 | 1 | _aSun, Liang-Dan | |
700 | 1 | _aCui, Yong | |
700 | 1 | _aHu, Jing-Chu | |
700 | 1 | _aZhu, Jun | |
700 | 1 | _aChen, Gang | |
700 | 1 | _aTang, Xian-Fa | |
700 | 1 | _aSun, Guang-Qing | |
700 | 1 | _aTang, Hua-Yang | |
700 | 1 | _aLiu, Yuan | |
700 | 1 | _aLi, Min | |
700 | 1 | _aLi, Qi-Bin | |
700 | 1 | _aCheng, Hui | |
700 | 1 | _aGao, Min | |
700 | 1 | _aLi, Ping | |
700 | 1 | _aYang, Xu | |
700 | 1 | _aZuo, Xian-Bo | |
700 | 1 | _aZheng, Xiao-Dong | |
700 | 1 | _aWang, Pei-Guang | |
700 | 1 | _aWang, Jian | |
700 | 1 | _aWang, Jun | |
700 | 1 | _aLiu, Jian-Jun | |
700 | 1 | _aYang, Sen | |
700 | 1 | _aLi, Ying-Rui | |
700 | 1 | _aZhang, Xue-Jun | |
773 | 0 |
_tJournal of medical genetics _gvol. 49 _gno. 12 _gp. 727-30 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2012-101134 _zAvailable from publisher's website |
999 |
_c22214123 _d22214123 |