STUDY: Targeted MitoExome Sequencing of Mitochondrial OXPHOS Diseases (Massachusetts General Hospital)

Study Description

Human disorders of mitochondrial oxidative phosphorylation (OXPHOS) represent a devastating collection of inherited diseases. These... Show More

Study Accession Alternative Stable ID type
phs000339.v1.p1 dbGaP Case Set

Who controls access to this study

National Human Genome Research Institute
Access information:

Publications

Data provider(s)

  • Title Name Institute
    Principal Investigator Vamsi Mootha, MD Department of Systems Biology, Harvard Medical School; Department of Medicine, Massachusetts General Hospital; Broad Institute of MIT and Havard, Boston, MA, USA
    Funding Source 1RC2HG005556-01 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)