Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease-Reference-Cited by-同舟云学术

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Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease

Published:2012-01-18 Issue:6 Volume:20 Page:650-656
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van der Walt Elizna M,Smuts Izelle,Taylor Robert W,Elson Joanna L,Turnbull Douglass M,Louw Roan,van der Westhuizen Francois H

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011262.pdf

Reference39 articles.

1. Skladal D, Halliday J, Thorburn DR : Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003; 126: 1905–1912.

2. Anderson S, Bankier AT, Barrell BG et al: Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457–465.

3. Reinecke F, Smeitink JAM, van der Westhuizen FH : OXPHOS gene expression and control in mitochondrial disorders. Biochim Biophys Acta 2009; 1792: 1113–1121.

4. Zeviani M, Di Donato S : Mitochondrial disorders. Brain 2004; 127: 2153–2172.

5. Swalwell H, Kirby DM, Blakely EL et al: Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet 2011; 19: 769–775.

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