000 01890 a2200649 4500
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