A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. [electronic resource]
Producer: 20130214Description: 1088-94 p. digitalISSN:- 1537-6605
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.