Linked Life Data

17400793

Source:http://linkedlifedata.com/resource/pubmed/id/17400793

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2007-4-2
pubmed:abstractText
Detection of mutations in the mitochondrial DNA (mtDNA) is usually limited to common mutations and the transfer RNA genes. However, mutations in other mtDNA regions can be an important cause of oxidative phosphorylation (OXPHOS) disease as well.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-10589546, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-10629037, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-10686111, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-10721666, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-10908920, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-11020667, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-11133798, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-11198278, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-11331900, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-11695835, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-12509858, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-12624137, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-14520659, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-14651853, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-14730434, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-14995902, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-15126303, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-15190193, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-15767514, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-15861210, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-15972314, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-16199488, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-2102678, http://linkedlifedata.com/resource/pubmed/commentcorrection/17400793-9299505
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e74
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:17400793-Amino Acid Sequence, pubmed-meshheading:17400793-Animals, pubmed-meshheading:17400793-Brain, pubmed-meshheading:17400793-Child, pubmed-meshheading:17400793-Chromatography, High Pressure Liquid, pubmed-meshheading:17400793-DNA, Mitochondrial, pubmed-meshheading:17400793-DNA Mutational Analysis, pubmed-meshheading:17400793-Diseases in Twins, pubmed-meshheading:17400793-Electron Transport Complex I, pubmed-meshheading:17400793-Fatal Outcome, pubmed-meshheading:17400793-Female, pubmed-meshheading:17400793-Genetic Testing, pubmed-meshheading:17400793-Humans, pubmed-meshheading:17400793-Hydrophobic and Hydrophilic Interactions, pubmed-meshheading:17400793-Infant, Newborn, pubmed-meshheading:17400793-Leigh Disease, pubmed-meshheading:17400793-MELAS Syndrome, pubmed-meshheading:17400793-Male, pubmed-meshheading:17400793-Mitochondria, Muscle, pubmed-meshheading:17400793-Mitochondrial Diseases, pubmed-meshheading:17400793-Mitochondrial Proteins, pubmed-meshheading:17400793-Molecular Sequence Data, pubmed-meshheading:17400793-Mutation, Missense, pubmed-meshheading:17400793-Oxidative Phosphorylation, pubmed-meshheading:17400793-Phenotype, pubmed-meshheading:17400793-Protein Subunits, pubmed-meshheading:17400793-Sequence Alignment, pubmed-meshheading:17400793-Sequence Homology, Amino Acid
pubmed:year
2007
pubmed:articleTitle
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
pubmed:affiliation
Department of Clinical Genetics, University Hospital, Maastricht, The Netherlands. rien.blok@gen.unimaas.nl
pubmed:publicationType
Journal Article, Case Reports