| pubmed-article:8661001 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C0041341 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C0205147 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C0008633 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C1708726 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C1515529 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C0694894 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C1412698 | lld:lifeskim |
| pubmed-article:8661001 | lifeskim:mentions | umls-concept:C1880022 | lld:lifeskim |
| pubmed-article:8661001 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8661001 | pubmed:dateCreated | 1996-9-20 | lld:pubmed |
| pubmed-article:8661001 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:abstractText | In the search for candidate genes for the tuberous sclerosis (TSC1) disease locus on chromosome 9q34, we have isolated an overlapping series of 22 plasmid and phage cDNA clones covering nearly 7 kb and with an open reading frame of 5070 bp encoding a protein of 1690 amino acids. The putative protein product is a member of the kinesin superfamily and is homologous to the mouse KIF1A and the Caenorhabditas elegans unc-104 genes. Both KIF1A and unc-104 function in the anterograde axonal transport of synaptic vesicles. The human homolog is therefore termed H-ATSV (axonal transporter of synaptic vesicles, HGMW-approved nomenclature ATSV) Screening of DNA from 107 tuberous sclerosis patients and 80 unaffected individuals with H-ATSV cDNA probes by pulsed-field gel electrophoresis/Southern blotting following digestion by rare-cutting methylation-sensitive restriction enzymes showed variant banding patterns in three patients with tuberous sclerosis. However, further analysis indicated that these variant fragments represent a rare polymorphism probably associated with methylation of clustered restriction sites. There is no evidence to support H-ATSV as a candidate gene for TSC1. | lld:pubmed |
| pubmed-article:8661001 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8661001 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8661001 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8661001 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8661001 | pubmed:month | May | lld:pubmed |
| pubmed-article:8661001 | pubmed:issn | 0888-7543 | lld:pubmed |
| pubmed-article:8661001 | pubmed:author | pubmed-author:Ferguson-Smit... | lld:pubmed |
| pubmed-article:8661001 | pubmed:author | pubmed-author:FurlongR ARA | lld:pubmed |
| pubmed-article:8661001 | pubmed:author | pubmed-author:AffaraN ANA | lld:pubmed |
| pubmed-article:8661001 | pubmed:author | pubmed-author:ZhouC YCY | lld:pubmed |
| pubmed-article:8661001 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8661001 | pubmed:day | 1 | lld:pubmed |
| pubmed-article:8661001 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:8661001 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8661001 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8661001 | pubmed:pagination | 421-9 | lld:pubmed |
| pubmed-article:8661001 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:meshHeading | pubmed-meshheading:8661001-... | lld:pubmed |
| pubmed-article:8661001 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8661001 | pubmed:articleTitle | Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34. | lld:pubmed |
| pubmed-article:8661001 | pubmed:affiliation | Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, United Kingdom. | lld:pubmed |
| pubmed-article:8661001 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8661001 | pubmed:publicationType | Comparative Study | lld:pubmed |
| literatureCitation:5312_866... | literatureCitation:pubmed | pubmed-article:8661001 | lld:drugbank |
| entrez-gene:547 | entrezgene:pubmed | pubmed-article:8661001 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8661001 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:8661001 | lld:pubmed |
