Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.
about
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.A1 subunit-mediated regulation of thrombin-activated factor VIII A2 subunit dissociation.Mild hemophilia A.Molecular mechanisms of mild and moderate hemophilia A.Haemophilia A: from mutation analysis to new therapies.Generation of enhanced stability factor VIII variants by replacement of charged residues at the A2 domain interface.New approaches in the measurement of coagulation.Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development.Assay discrepancy in mild haemophilia A.A critical appraisal of one-stage and chromogenic assays of factor VIII activity.Identification of residues contributing to A2 domain-dependent structural stability in factor VIII and factor VIIIaCombining mutations of charged residues at the A2 domain interface enhances factor VIII stability over single point mutationsStabilizing interactions between D666-S1787 and T657-Y1792 at the A2-A3 interface support factor VIIIa stability in the blood clotting pathway.Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function.Diagnosis and management challenges in patients with mild haemophilia A and discrepant FVIII measurements.Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain.Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period.Grandpaternal mosaicism in a family with isolated haemophilia A.In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results.Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation.Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.Chromogenic Factor VIII Assays for Improved Diagnosis of Hemophilia A.Investigation of inflicted injury in a young girl reveals mild haemophilia A and Turner's syndrome.Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype.Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay.A recurrent F8 mutation in Irish haemophilia A patients: evidence for a founder effect.Novel mutations associated with a discrepancy between one-stage and chromogenic FVIII activity assays.Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)).Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.Single-dose pharmacokinetics of porcine factor VIII (Hyate C).Method validation and clinical utility of chromogenic factor VIII assay compared to one-stage assay.Discrepant factor VIII activity in a family with mild haemophilia A and 531 mutation using various FVIII assays and APTT reagents.Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.Assessment of the carrier status by pedigree analysis in some families from India.Chemical cleavage of mismatch (CCM) to locate base mismatches in heteroduplex DNA.Enhanced factor VIIIa stability of A2 domain interface variants results from an increased apparent affinity for the A2 subunit. Results from an increased apparent affinity for the A2 subunit.
P2860
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P2860
Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@en
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@nl
type
label
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@en
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@nl
prefLabel
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@en
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@nl
P2093
P921
P1476
Mutations in a subgroup of pat ...... o-stage factor VIII:C methods.
@en
P2093
P304
P356
10.1046/J.1365-2141.1996.D01-1792.X
P407
P577
1996-08-01T00:00:00Z