Identification of extremely rare mitochondrial disorders by whole exome sequencing-Reference-Cited by-同舟云学术

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Identification of extremely rare mitochondrial disorders by whole exome sequencing

Published:2019-08-26 Issue:11 Volume:64 Page:1117-1125
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Seo Go Hun,Oh Arum,Kim Eun Na,Lee Yeonmi,Park Jumi,Kim Taeho,Lim Young-Min,Kim Gu-Hwan,Kim Chong Jai,Yoo Han-Wook,Kang Eunju,Lee Beom Hee

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-019-0660-y.pdf

Reference26 articles.

1. Thorburn DR. Mitochondrial disorders: prevalence, myths and advances. J Inherit Metab Dis. 2004;27:349–62.

2. Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 2016;44:D1251–7.

3. Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, et al. Spectrum of combined respiratory chain defects. J Inherit Metab Dis. 2015;38:629–40.

4. Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006;67:1823–6.

5. Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat. 2013;34:1721–6.

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