000			01944 a2200613 4500
005			20250516121336.0
264		0	_c20130214
008			201302s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2012.09.018 _2doi
040			_aNLM _beng _cNLM
100	1		_aXu, Wang-Yang
245	0	0	_aA nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. _h[electronic resource]
260			_bAmerican journal of human genetics _cDec 2012
300			_a1088-94 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAmino Acid Sequence
650	0	4	_aAsian People _xgenetics
650	0	4	_aBase Sequence
650	0	4	_aCharcot-Marie-Tooth Disease _xdiagnosis
650	0	4	_aChina
650	0	4	_aCodon, Nonsense
650	0	4	_aExons
650	0	4	_aFemale
650	0	4	_aGene Order
650	0	4	_aHumans
650	0	4	_aKetoglutarate Dehydrogenase Complex
650	0	4	_aKetone Oxidoreductases _xgenetics
650	0	4	_aMale
650	0	4	_aMitochondria, Muscle _xgenetics
650	0	4	_aModels, Molecular
650	0	4	_aMolecular Sequence Data
650	0	4	_aMuscle, Skeletal _xmetabolism
650	0	4	_aNonsense Mediated mRNA Decay
650	0	4	_aPedigree
700	1		_aGu, Ming-Min
700	1		_aSun, Lian-Hua
700	1		_aGuo, Wen-Ting
700	1		_aZhu, Hou-Bao
700	1		_aMa, Jian-Fang
700	1		_aYuan, Wen-Tao
700	1		_aKuang, Ying
700	1		_aJi, Bao-Jun
700	1		_aWu, Xiao-Lin
700	1		_aChen, Yan
700	1		_aZhang, Hong-Xin
700	1		_aSun, Fu-Ting
700	1		_aHuang, Wei
700	1		_aHuang, Lei
700	1		_aChen, Sheng-di
700	1		_aWang, Zhu-Gang
773	0		_tAmerican journal of human genetics _gvol. 91 _gno. 6 _gp. 1088-94
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2012.09.018 _zAvailable from publisher's website
999			_c22253816 _d22253816