| pubmed-article:11858490 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0019080 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0015499 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0015498 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:11858490 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:11858490 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:11858490 | pubmed:dateCreated | 2002-2-22 | lld:pubmed |
| pubmed-article:11858490 | pubmed:abstractText | The molecular basis of Factor V deficiency has been defined in few patients only. We report a homozygous nucleotide change (G6395A) in two Tunisian probands with Factor V deficiency and bleeding episodes. This substitution results in the replacement of an arginine (R) by a histidine (H) in amino acid position 2074, located in the Factor V C2-domain. Mutations in this protein domain have not previously been described. Several lines of evidence support that this sequence variant is indeed disease causing: 1) Crystal structures of Factor V and molecular C2-domain modeling studies of H2074 suggest that the conserved R2074 is required for correct folding; 2) Structure-function studies of selective Factor V mutants (R2074A) demonstrate the importance of R2074 for structural stability of the Factor V C2-domain and for cofactor activity (1); 3) In Factor VIII, point mutations in codon 2209, which corresponds to position 2074 in Factor V, cause hemophilia A. | lld:pubmed |
| pubmed-article:11858490 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11858490 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11858490 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11858490 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11858490 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11858490 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:11858490 | pubmed:issn | 0340-6245 | lld:pubmed |
| pubmed-article:11858490 | pubmed:author | pubmed-author:JonesC DCD | lld:pubmed |
| pubmed-article:11858490 | pubmed:author | pubmed-author:ZehnderJ LJL | lld:pubmed |
| pubmed-article:11858490 | pubmed:author | pubmed-author:GarciaK CKC | lld:pubmed |
| pubmed-article:11858490 | pubmed:author | pubmed-author:SchrijverII | lld:pubmed |
| pubmed-article:11858490 | pubmed:author | pubmed-author:Houissa-Kasta... | lld:pubmed |
| pubmed-article:11858490 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11858490 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:11858490 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11858490 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11858490 | pubmed:pagination | 294-9 | lld:pubmed |
| pubmed-article:11858490 | pubmed:dateRevised | 2005-11-16 | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:meshHeading | pubmed-meshheading:11858490... | lld:pubmed |
| pubmed-article:11858490 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:11858490 | pubmed:articleTitle | Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. | lld:pubmed |
| pubmed-article:11858490 | pubmed:affiliation | Department of Pathology, Stanford University School of Medicine, CA 94305, USA. | lld:pubmed |
| pubmed-article:11858490 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:11858490 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:11858490 | pubmed:publicationType | Case Reports | lld:pubmed |
| literatureCitation:46_11858... | literatureCitation:pubmed | pubmed-article:11858490 | lld:drugbank |
| entrez-gene:2153 | entrezgene:pubmed | pubmed-article:11858490 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:11858490 | lld:entrezgene |
| lhgdn:association:47104 | lhgdn:found_in | pubmed-article:11858490 | lld:lhgdn |
