000 01950 a2200649 4500
005 20250516020804.0
264 0 _c20110303
008 201103s 0 0 eng d
022 _a1471-2350
024 7 _a10.1186/1471-2350-12-6
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLi, Xin-Hua
245 0 0 _aClinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
_h[electronic resource]
260 _bBMC medical genetics
_cJan 2011
300 _a6 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdenosine Triphosphatases
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAlanine Transaminase
_xanalysis
650 0 4 _aAsian People
_xgenetics
650 0 4 _aBase Sequence
650 0 4 _aCation Transport Proteins
_xgenetics
650 0 4 _aCeruloplasmin
_xanalysis
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCopper
_xurine
650 0 4 _aCopper-Transporting ATPases
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aGenetic Testing
650 0 4 _aHepatolenticular Degeneration
_xdiagnosis
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aPromoter Regions, Genetic
650 0 4 _aYoung Adult
700 1 _aLu, Yi
700 1 _aLing, Yun
700 1 _aFu, Qing-Chun
700 1 _aXu, Jie
700 1 _aZang, Guo-Qing
700 1 _aZhou, Feng
700 1 _aDe-Min, Yu
700 1 _aHan, Yue
700 1 _aZhang, Dong-Hua
700 1 _aGong, Qi-Ming
700 1 _aLu, Zhi-Meng
700 1 _aKong, Xiao-Fei
700 1 _aWang, Jian-She
700 1 _aZhang, Xin-Xin
773 0 _tBMC medical genetics
_gvol. 12
_gp. 6
856 4 0 _uhttps://doi.org/10.1186/1471-2350-12-6
_zAvailable from publisher's website
999 _c20504000
_d20504000