Advanced search
1 file | 696.36 KB

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

(2013) MITOCHONDRION. 13(6). p.656-661
Author
Organization
Keywords
RESPIRATORY-CHAIN DEFECTS, ND1 GENE, ND1, Leigh disease, Coenzyme Q binding, Infantile spasms, COMPLEX-I DEFICIENCY, MITOCHONDRIAL-DNA MUTATIONS, MELAS, DISORDERS, DIAGNOSIS, MTDNA, CHILDREN, Electron transport chain complex 1, INTRAGENIC INVERSION

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 696.36 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Wray, Carter D, Marisa W Friederich, Desiree du Sart, Sarah Pantaleo, Joél Smet, Cathlin Kucera, Laura Fenton, Gunter Scharer, Rudy Van Coster, and Johan LK Van Hove. 2013. “A New Mutation in MT-ND1 m.3928G>C p.V208L Causes Leigh Disease with Infantile Spasms.” Mitochondrion 13 (6): 656–661.
APA
Wray, C. D., Friederich, M. W., du Sart, D., Pantaleo, S., Smet, J., Kucera, C., Fenton, L., et al. (2013). A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. MITOCHONDRION, 13(6), 656–661.
Vancouver
1.
Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, et al. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. MITOCHONDRION. 2013;13(6):656–61.
MLA
Wray, Carter D, Marisa W Friederich, Desiree du Sart, et al. “A New Mutation in MT-ND1 m.3928G>C p.V208L Causes Leigh Disease with Infantile Spasms.” MITOCHONDRION 13.6 (2013): 656–661. Print.
@article{4248564,
  author       = {Wray, Carter D and Friederich, Marisa W and du Sart, Desiree and Pantaleo, Sarah and Smet, Jo{\'e}l and Kucera, Cathlin and Fenton, Laura and Scharer, Gunter and Van Coster, Rudy and Van Hove, Johan LK},
  issn         = {1567-7249},
  journal      = {MITOCHONDRION},
  language     = {eng},
  number       = {6},
  pages        = {656--661},
  title        = {A new mutation in MT-ND1 m.3928G{\textrangle}C p.V208L causes Leigh disease with infantile spasms},
  url          = {http://dx.doi.org/10.1016/j.mito.2013.09.004},
  volume       = {13},
  year         = {2013},
}

Altmetric
View in Altmetric
Web of Science
Times cited: