A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
Xu, Wang-Yang
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. [electronic resource] - American journal of human genetics Dec 2012 - 1088-94 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.09.018 doi
Amino Acid Sequence
Asian People--genetics
Base Sequence
Charcot-Marie-Tooth Disease--diagnosis
China
Codon, Nonsense
Exons
Female
Gene Order
Humans
Ketoglutarate Dehydrogenase Complex
Ketone Oxidoreductases--genetics
Male
Mitochondria, Muscle--genetics
Models, Molecular
Molecular Sequence Data
Muscle, Skeletal--metabolism
Nonsense Mediated mRNA Decay
Pedigree
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. [electronic resource] - American journal of human genetics Dec 2012 - 1088-94 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2012.09.018 doi
Amino Acid Sequence
Asian People--genetics
Base Sequence
Charcot-Marie-Tooth Disease--diagnosis
China
Codon, Nonsense
Exons
Female
Gene Order
Humans
Ketoglutarate Dehydrogenase Complex
Ketone Oxidoreductases--genetics
Male
Mitochondria, Muscle--genetics
Models, Molecular
Molecular Sequence Data
Muscle, Skeletal--metabolism
Nonsense Mediated mRNA Decay
Pedigree