TY  - GEN
AU  - Xu,Wang-Yang
AU  - Gu,Ming-Min
AU  - Sun,Lian-Hua
AU  - Guo,Wen-Ting
AU  - Zhu,Hou-Bao
AU  - Ma,Jian-Fang
AU  - Yuan,Wen-Tao
AU  - Kuang,Ying
AU  - Ji,Bao-Jun
AU  - Wu,Xiao-Lin
AU  - Chen,Yan
AU  - Zhang,Hong-Xin
AU  - Sun,Fu-Ting
AU  - Huang,Wei
AU  - Huang,Lei
AU  - Chen,Sheng-di
AU  - Wang,Zhu-Gang
TI  - A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree
SN  - 1537-6605
PY  - 2013///0214
KW  - Amino Acid Sequence
KW  - Asian People
KW  - genetics
KW  - Base Sequence
KW  - Charcot-Marie-Tooth Disease
KW  - diagnosis
KW  - China
KW  - Codon, Nonsense
KW  - Exons
KW  - Female
KW  - Gene Order
KW  - Humans
KW  - Ketoglutarate Dehydrogenase Complex
KW  - Ketone Oxidoreductases
KW  - Male
KW  - Mitochondria, Muscle
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Nonsense Mediated mRNA Decay
KW  - Pedigree
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.09.018
ER  -