First-line genomic diagnosis of mitochondrial disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/s41576-018-0022-1.pdf
Reference5 articles.
1. Gorman, G. S. et al. Mitochondrial diseases. Nat. Rev. Dis. Primers 2, 16080 (2016).
2. Vafai, S. B. & Mootha, V. K. Medicine. A common pathway for a rare disease? Science 342, 1453–1454 (2013).
3. Stewart, J. B. & Chinnery, P. F. The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nat. Rev. Genet. 16, 530–542 (2015).
4. Wright, C. F., FitzPatrick, D. R. & Firth, H. V. Paediatric genomics: diagnosing rare disease in children. Nat. Rev. Genet. 19, 253–268 (2018).
5. Li, M. et al. Transmission of human mtDNA heteroplasmy in the genome of the Netherlands families: support for a variable-size bottleneck. Genome Res. 26, 417–426 (2016).
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