High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency-Reference-Cited by-同舟云学术

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Published:2010-09-05 Issue:10 Volume:42 Page:851-858
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Calvo Sarah E,Tucker Elena J,Compton Alison G,Kirby Denise M,Crawford Gabriel,Burtt Noel P,Rivas Manuel,Guiducci Candace,Bruno Damien L,Goldberger Olga A,Redman Michelle C,Wiltshire Esko,Wilson Callum J,Altshuler David,Gabriel Stacey B,Daly Mark J,Thorburn David R,Mootha Vamsi K

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.659.pdf

Reference51 articles.

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3. Janssen, R.J., Nijtmans, L.G., van den Heuvel, L.P. & Smeitink, J.A. Mitochondrial complex I: structure, function and pathology. J. Inherit. Metab. Dis. 29, 499–515 (2006).

4. Lazarou, M., Thorburn, D.R., Ryan, M.T. & McKenzie, M. Assembly of mitochondrial complex I and defects in disease. Biochim. Biophys. Acta 1793, 78–88 (2009).

5. Bernier, F.P. et al. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59, 1406–1411 (2002).

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