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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-09-05

AUTHORS

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

ABSTRACT

Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency. They identify two genes newly associated with complex I deficiency and are able to provide genetic diagnoses in 22% of their previously unsolved cases.

PAGES

851-858

Journal

TITLE

Nature Genetics

ISSUE

10

VOLUME

42

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.659

DOI

http://dx.doi.org/10.1038/ng.659

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016680545

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/20818383


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