| http://purl.uniprot.org/citations/11986213 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11986213 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11986213 | http://www.w3.org/2000/01/rdf-schema#comment | "We present a novel gamma-chain dysfibrinogen that was discovered in a 32-year-old asymptomatic man admitted to the hospital after a car accident. He presented with a low fibrinogen concentration, 0.5 mg/mL, and a prolonged thrombin clotting time, 58 seconds. Analysis of purified fibrinogen by sodium dodecyl sulfate-polyacrylamide gel electrophoresis revealed a gamma-chain variant with an apparently higher molecular weight. Isoelectric focusing (IEF) demonstrated an anodal shift in the banding pattern of the chains and electrospray ionization mass spectrometry (ESIMS) showed a 27-Da increase in the average mass of the unresolved variant and normal gamma chains. DNA sequence analysis showed a heterozygous mutation of GGC (Gly)-->GAC (Asp) at codon 309 of the gamma chain gene. This Gly--> Asp substitution was consistent with the charge change shown by IEF as well as the mass change identified by ESIMS. Functional analysis revealed that thrombin-catalyzed polymerization occurred with a longer lag time, lower rate of lateral aggregation, and similar final turbidity compared to normal and that factor XIII cross-linking was normal. The polymerization results suggest that residue gamma309 is necessary for proper alignment of fibrinogen molecules, specifically in protofibril formation and D:D interactions. gammaGly309 is highly conserved and x-ray structures support the conclusion that the lack of a side chain at this position helps facilitate the close contact between abutting gammaD domains of condensing fibrin monomers during polymerization."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood.v99.10.3597"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood.v99.10.3597"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Brennan S.O."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Brennan S.O."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "George P.M."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "George P.M."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Ganly P.S."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Ganly P.S."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Mullin J.L."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/author | "Mullin J.L."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/date | "2002"xsd:gYear |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/pages | "3597-3601"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/pages | "3597-3601"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/title | "Fibrinogen Hillsborough: a novel gamma-gly309asp dysfibrinogen with impaired clotting."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/title | "Fibrinogen Hillsborough: a novel gamma-gly309asp dysfibrinogen with impaired clotting."xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/volume | "99"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://purl.uniprot.org/core/volume | "99"xsd:string |
| http://purl.uniprot.org/citations/11986213 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11986213 |
| http://purl.uniprot.org/citations/11986213 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11986213 |