Mutations in the FVIII gene in seven families with mild haemophilia A.
about
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.The molecular biology of von Willebrand disease.Molecular mechanisms of mild and moderate hemophilia A.New approaches in the measurement of coagulation.Assay discrepancy in mild haemophilia A.A critical appraisal of one-stage and chromogenic assays of factor VIII activity.Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function.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.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.Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.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.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.Method validation and clinical utility of chromogenic factor VIII assay compared to one-stage assay.Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.
P2860
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P2860
Mutations in the FVIII gene in seven families with mild haemophilia A.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh
1997年學術文章
@zh-hant
name
Mutations in the FVIII gene in seven families with mild haemophilia A.
@en
Mutations in the FVIII gene in seven families with mild haemophilia A.
@nl
type
label
Mutations in the FVIII gene in seven families with mild haemophilia A.
@en
Mutations in the FVIII gene in seven families with mild haemophilia A.
@nl
prefLabel
Mutations in the FVIII gene in seven families with mild haemophilia A.
@en
Mutations in the FVIII gene in seven families with mild haemophilia A.
@nl
P2093
P1476
Mutations in the FVIII gene in seven families with mild haemophilia A.
@en
P2093
Mazurier C
Parquet-Gernez A
P304
P356
10.1046/J.1365-2141.1997.D01-2008.X
P407
P577
1997-02-01T00:00:00Z