| pubmed-article:17603240 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17603240 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:17603240 | lifeskim:mentions | umls-concept:C0040038 | lld:lifeskim |
| pubmed-article:17603240 | lifeskim:mentions | umls-concept:C0398625 | lld:lifeskim |
| pubmed-article:17603240 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
| pubmed-article:17603240 | lifeskim:mentions | umls-concept:C0205396 | lld:lifeskim |
| pubmed-article:17603240 | pubmed:issue | 13 | lld:pubmed |
| pubmed-article:17603240 | pubmed:dateCreated | 2007-7-2 | lld:pubmed |
| pubmed-article:17603240 | pubmed:abstractText | Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was previously reported. The other two are C-154T promoter polymorphism (rs1799808 on dbSNP database), the function of which is unknown and Ser99Ser synonymous polymorphism (rs5936). All three mutations were found in a 24-year-old patient with pulmonary thromboembolism and his 54-year-old father who also had pulmonary thromboembolism. C-154T promoter polymorphism (rs1799808 on dbSNP database) and Ser99Ser synonymous polymorphism (rs5936) were found in the patient's mother. | lld:pubmed |
| pubmed-article:17603240 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17603240 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17603240 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17603240 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17603240 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17603240 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17603240 | pubmed:issn | 1349-7235 | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:HoshiSakuoS | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:KeichoNaotoN | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:YamaguchiTets... | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:HijikataMinak... | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:YamadaYoshihi... | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:AmanoHirokoH | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:KonoChiyokoC | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:TogashiYuukiY | lld:pubmed |
| pubmed-article:17603240 | pubmed:author | pubmed-author:AoyagiTetsuji... | lld:pubmed |
| pubmed-article:17603240 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:17603240 | pubmed:volume | 46 | lld:pubmed |
| pubmed-article:17603240 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17603240 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17603240 | pubmed:pagination | 997-1003 | lld:pubmed |
| pubmed-article:17603240 | pubmed:dateRevised | 2007-9-19 | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:meshHeading | pubmed-meshheading:17603240... | lld:pubmed |
| pubmed-article:17603240 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17603240 | pubmed:articleTitle | Protein C deficiency in a family with thromboembolism and identified gene mutations. | lld:pubmed |
| pubmed-article:17603240 | pubmed:affiliation | Respiratory Medicine, JR Tokyo General Hospital. sakuchin@sannet.ne.jp | lld:pubmed |
| pubmed-article:17603240 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17603240 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:17603240 | pubmed:publicationType | Case Reports | lld:pubmed |
| entrez-gene:5624 | entrezgene:pubmed | pubmed-article:17603240 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17603240 | lld:entrezgene |
