| pubmed-article:11799391 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11799391 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11799391 | lifeskim:mentions | umls-concept:C0012929 | lld:lifeskim |
| pubmed-article:11799391 | lifeskim:mentions | umls-concept:C0410916 | lld:lifeskim |
| pubmed-article:11799391 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:11799391 | lifeskim:mentions | umls-concept:C0439064 | lld:lifeskim |
| pubmed-article:11799391 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:11799391 | pubmed:dateCreated | 2002-1-30 | lld:pubmed |
| pubmed-article:11799391 | pubmed:abstractText | Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease. We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease. | lld:pubmed |
| pubmed-article:11799391 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11799391 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11799391 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11799391 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11799391 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11799391 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:11799391 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:MorrisAndrew... | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:McFarlandRobe... | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:ClarkKim MKM | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:TaylorRobert... | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:MacphailSheil... | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:LightowlersRo... | lld:pubmed |
| pubmed-article:11799391 | pubmed:author | pubmed-author:TurnbullDougl... | lld:pubmed |
| pubmed-article:11799391 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11799391 | pubmed:volume | 30 | lld:pubmed |
| pubmed-article:11799391 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11799391 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11799391 | pubmed:pagination | 145-6 | lld:pubmed |
| pubmed-article:11799391 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:meshHeading | pubmed-meshheading:11799391... | lld:pubmed |
| pubmed-article:11799391 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11799391 | pubmed:articleTitle | Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. | lld:pubmed |
| pubmed-article:11799391 | pubmed:affiliation | Departments of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. | lld:pubmed |
| pubmed-article:11799391 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11799391 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:11799391 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11799391 | lld:pubmed |
