Next generation molecular diagnosis of mitochondrial disorders
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Molecular Medicine
Reference103 articles.
1. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype;Alfares;J. Med. Genet.,2011
2. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach;Bai;Clin. Chem.,2004
3. A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis;Baughman;PLoS Genet.,2009
4. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V;Beetz;Am. J. Hum. Genet.,2012
5. Toward the $1000 human genome;Bennett;Pharmacogenomics,2005
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