| pubmed-article:15198740 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15198740 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:15198740 | lifeskim:mentions | umls-concept:C0015503 | lld:lifeskim |
| pubmed-article:15198740 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:15198740 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:15198740 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:15198740 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:15198740 | pubmed:dateCreated | 2004-6-16 | lld:pubmed |
| pubmed-article:15198740 | pubmed:abstractText | We have characterized the molecular defect in two families with severe factor VII (FVII) deficiency. In family I, the proband was found to be homozygous for a novel 18 bp deletion in exon 8 (g.10896-10913del) resulting in the in-frame deletion of six amino acids in the serine protease domain. Molecular modelling suggests the deletion is likely to disrupt folding of the FVII molecule. The reduced FVII antigen (21 U/dl) and negligible activity (0.4 U/dl) in the patient's plasma indicated that the deletion affected both the secretion/stability and function of the mutant protein. In family II, the proband was found to be a compound heterozygote for a novel missense mutation (g.7884G>A; FVII G117R) in exon 5 encoding the EGF2 domain of FVII and a nonsense mutation (g.8960C>T; FVII R152X) in exon 6. Extensive sequence comparison in a wide evolutionary context suggested that the Gly117 residue is critical for structure of FVII. The grossly reduced FVII antigen (1.1 U/dl) and activity (0.4 U/dl) plasma values indicate the mutation primarily affected the folding/secretion or stability of the protein. | lld:pubmed |
| pubmed-article:15198740 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15198740 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15198740 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:15198740 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15198740 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15198740 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:15198740 | pubmed:issn | 0007-1048 | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:Kemball-CookG... | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:LaffanMichael... | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:McVeyJohn HJH | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:TuddenhamEdwa... | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:PasiJohnJ | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:GomezKeithK | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:LaytonMarkM | lld:pubmed |
| pubmed-article:15198740 | pubmed:author | pubmed-author:SingerJack... | lld:pubmed |
| pubmed-article:15198740 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15198740 | pubmed:volume | 126 | lld:pubmed |
| pubmed-article:15198740 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15198740 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15198740 | pubmed:pagination | 105-10 | lld:pubmed |
| pubmed-article:15198740 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
| pubmed-article:15198740 | pubmed:meshHeading | pubmed-meshheading:15198740... | lld:pubmed |
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| pubmed-article:15198740 | pubmed:meshHeading | pubmed-meshheading:15198740... | lld:pubmed |
| pubmed-article:15198740 | pubmed:year | 2004 | lld:pubmed |
| pubmed-article:15198740 | pubmed:articleTitle | Two novel mutations in severe factor VII deficiency. | lld:pubmed |
| pubmed-article:15198740 | pubmed:affiliation | Haemostasis and Thrombosis, MRC Clinical Sciences Centre, The Faculty of Medicine, Imperial College, Du Cane Road, London, UK. | lld:pubmed |
| pubmed-article:15198740 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:15198740 | pubmed:publicationType | Case Reports | lld:pubmed |
