The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
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Genetic analysis of haemophilia A in BulgariaImmunogenicity of Biotherapeutics: Causes and Association with Posttranslational ModificationsTrp2313-His2315 of Factor VIII C2 Domain Is Involved in Membrane Binding: STRUCTURE OF A COMPLEX BETWEEN THE C2 DOMAIN AND AN INHIBITOR OF MEMBRANE BINDINGDomain organization of membrane-bound factor VIII.Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisisIdentification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.Haemophilia management: time to get personal?Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion.An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D.Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.Role of hydrophobic mutations on the binding affinity and stability of blood coagulation factor VIIIa: a computational molecular dynamics and free-energy analysis.Somatic mosaicism in hemophilia A: a fairly common event.In vitro and In vivo Model Systems for Hemophilia A Gene Therapy.Inhibitor development in correlation to factor VIII genotypes.Inhibitors: resolving diagnostic and therapeutic dilemmas.Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.A Glu113Ala mutation within a factor VIII Ca2+-binding site enhances cofactor interactions in factor Xase.Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.A novel mutation (4040-4045 nt. delA) in exon 14 of the factor VIII gene causing severe hemophilia AA sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview.Molecular basis of haemophilia A.P3-P3' residues flanking scissile bonds in factor VIII modulate rates of substrate cleavage and procofactor activation by thrombinThe anticoagulant protein C pathway.Genetic risk factors for inhibitors to factors VIII and IX.Characteristics of inhibitors in mild/moderate haemophilia A.Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface.Acidic residues C-terminal to the A2 domain facilitate thrombin-catalyzed activation of factor VIII.Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development.Inhibitors in mild/moderate haemophilia A: two case reports and a literature review.Inhibitors of factor VIII in black patients with hemophiliaIdentification of residues in the 558-loop of factor VIIIa A2 subunit that interact with factor IXaRNA-based therapeutic approaches for coagulation factor deficiencies.Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiencyTreatment burden, haemostatic strategies and real world inhibitor screening practice in non-severe haemophilia A.A large-scale computational study of inhibitor risk in non-severe haemophilia A.Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIaIn non-severe hemophilia A the risk of inhibitor after intensive factor treatment is greater in older patients: a case-control study.The enhancing effects of the light chain on heavy chain secretion in split delivery of factor VIII gene.
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P2860
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
@en
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.
@nl
type
label
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
@en
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.
@nl
prefLabel
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
@en
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4.
@nl
P2093
P2860
P356
P1476
The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4
@en
P2093
Kemball-Cook G
Tuddenham EG
P2860
P304
P356
10.1093/NAR/26.1.216
P407
P577
1998-01-01T00:00:00Z