| pubmed-article:18180623 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0015503 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0544885 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0332257 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:18180623 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
| pubmed-article:18180623 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:18180623 | pubmed:dateCreated | 2008-1-8 | lld:pubmed |
| pubmed-article:18180623 | pubmed:abstractText | A 26-year-old man who had a history of recurrent spontaneous nasal bleeding was admitted to our hospital with uncontrolled traumatic subdural hemorrhage. His plasma factor VII activity was less than 10% of normal. DNA sequence analysis revealed that the proband had a compound heterozygote for a novel nonsense mutation (F7 NM_000131.2 c.345C > A; p.Cys115X) in exon 4 encoding the EGF1 domain and a known missense mutation (F7 NM_000131.2 c.1027G > A; p.Gly343Ser) in exon 8 encoding the serine protease domain of F7. The same F7 Gly343Ser mutation was present in the asymptomatic father, who exhibited a modest reduction in the plasma level of factor VII activity (48%). | lld:pubmed |
| pubmed-article:18180623 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18180623 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18180623 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18180623 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18180623 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:18180623 | pubmed:issn | 0957-5235 | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:HwangSang-Hyu... | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:LeeSun-MinSM | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:HeoYong-SeokY... | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:ShinHo-JinHJ | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:ChangChulhun... | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:LeeEun-YupEY | lld:pubmed |
| pubmed-article:18180623 | pubmed:author | pubmed-author:ChungJoo-Seop... | lld:pubmed |
| pubmed-article:18180623 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18180623 | pubmed:volume | 19 | lld:pubmed |
| pubmed-article:18180623 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18180623 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18180623 | pubmed:pagination | 92-4 | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:meshHeading | pubmed-meshheading:18180623... | lld:pubmed |
| pubmed-article:18180623 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18180623 | pubmed:articleTitle | Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation. | lld:pubmed |
| pubmed-article:18180623 | pubmed:affiliation | Department of Laboratory Medicine, Pusan National University, School of Medicine, Seo-Gu, Busan, Korea. | lld:pubmed |
| pubmed-article:18180623 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18180623 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:18180623 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
