17400793

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

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0012634, umls-concept:C0012929, umls-concept:C0026882, umls-concept:C0030013, umls-concept:C0332183, umls-concept:C1524003, umls-concept:C1537994, umls-concept:C1711351, umls-concept:C2245017
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	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA, Mitochondrial, http://linkedlifedata.com/resource/pubmed/chemical/Electron Transport Complex I, http://linkedlifedata.com/resource/pubmed/chemical/Mitochondrial Proteins, http://linkedlifedata.com/resource/pubmed/chemical/ND5 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Protein Subunits
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	1468-6244
pubmed:author	pubmed-author:BlomM LML, pubmed-author:HendrickxAA, pubmed-author:SchoonderwoerdKK, pubmed-author:SmeetsH JHJ, pubmed-author:SpruijtLL, pubmed-author:de CooI F MIF
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