| pubmed-article:11343307 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11343307 | lifeskim:mentions | umls-concept:C0917796 | lld:lifeskim |
| pubmed-article:11343307 | lifeskim:mentions | umls-concept:C0012929 | lld:lifeskim |
| pubmed-article:11343307 | lifeskim:mentions | umls-concept:C0038015 | lld:lifeskim |
| pubmed-article:11343307 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:11343307 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:11343307 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:11343307 | pubmed:dateCreated | 2001-5-8 | lld:pubmed |
| pubmed-article:11343307 | pubmed:abstractText | A patient was diagnosed in 1974 with the unique combination of Leber hereditary optic neuropathy (LHON) and spondyloepiphyseal dysplasia. The entire mitochondrial DNA (mtDNA) sequence from this patient was determined in order to identify candidate pathogenic mutations. The patient's mtDNA carried the LHON mutation at nucleotide 14484, thus elucidating the etiology of his optic neuropathy. We also identified another ND6 mutation at nucleotide 14420. This latter mutation is probably a clinically benign private polymorphism, although a pathogenic role in his skeletal abnormalities or in his optic neuropathy cannot yet be ruled out. | lld:pubmed |
| pubmed-article:11343307 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11343307 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11343307 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11343307 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11343307 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11343307 | pubmed:month | May | lld:pubmed |
| pubmed-article:11343307 | pubmed:issn | 0148-7299 | lld:pubmed |
| pubmed-article:11343307 | pubmed:author | pubmed-author:HarterD HDH | lld:pubmed |
| pubmed-article:11343307 | pubmed:author | pubmed-author:HodessA BAB | lld:pubmed |
| pubmed-article:11343307 | pubmed:author | pubmed-author:KubackiAA | lld:pubmed |
| pubmed-article:11343307 | pubmed:author | pubmed-author:HowellNN | lld:pubmed |
| pubmed-article:11343307 | pubmed:author | pubmed-author:McDonoughBB | lld:pubmed |
| pubmed-article:11343307 | pubmed:copyrightInfo | Copyright 2001 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:11343307 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11343307 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:11343307 | pubmed:volume | 100 | lld:pubmed |
| pubmed-article:11343307 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11343307 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11343307 | pubmed:pagination | 219-22 | lld:pubmed |
| pubmed-article:11343307 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:meshHeading | pubmed-meshheading:11343307... | lld:pubmed |
| pubmed-article:11343307 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11343307 | pubmed:articleTitle | mtDNA analysis of Leber hereditary optic neuropathy associated with spondyloepiphyseal dysplasia. | lld:pubmed |
| pubmed-article:11343307 | pubmed:affiliation | Department of Radiation Oncology, The University of Texas Medical Branch, Galveston, Texas 77555-0656, USA. nhowell@utmb.edu | lld:pubmed |
| pubmed-article:11343307 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11343307 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:11343307 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:11343307 | lld:pubmed |
