A national perspective on prenatal testing for mitochondrial disease-Reference-Cited by-同舟云学术

A national perspective on prenatal testing for mitochondrial disease

Published:2014-03-19 Issue:11 Volume:22 Page:1255-1259
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nesbitt Victoria,Alston Charlotte L,Blakely Emma L,Fratter Carl,Feeney Catherine L,Poulton Joanna,Brown Garry K,Turnbull Doug M,Taylor Robert W,McFarland Robert

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201435.pdf

Reference35 articles.

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

2. Scaglia F, Towbin JA, Craigen WJ et al: Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925–931.

3. Schaefer AM, McFarland R, Blakely EL et al: Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35–39.

4. Taylor RW, Turnbull DM : Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389–402.

5. Schon EA, DiMauro S, Hirano M : Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet 2012; 13: 878–890.

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