Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
Author:
Funder
French Ministry Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-018-0568-y.pdf
Reference44 articles.
1. Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet. 2008;83:254–60.
2. Robin ED, Wong R. Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells. J Cell Physiol. 1988;136:507–13.
3. 1. Craven L, Alston CL, Taylor RW, Turnbull DM. Recent advances in mitochondrial disease. Annu Rev Genomics Hum Genet. 2017
4. 2. Available from: http://www.annualreviews.org/doi/abs/10.1146/annurev-genom-091416-035426 . Cited 15 Oct 2017
5. 3. Saneto RP. Genetics of Mitochondrial Disease. Adv Genet. 2017:63-116. Elsevier
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