about
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093IleMolecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cellsThe molecular basis of factor V and VIII procofactor activationBlood coagulation factors V and VIII: Molecular Mechanisms of Procofactor Activation.Mild hemophilia A.Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional proteinCharacteristics of inhibitors in mild/moderate haemophilia A.Inhibitors in mild/moderate haemophilia A: two case reports and a literature review.Joint protection in haemophilia.Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A.Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation.Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.Development of an inhibitor in a man with mild haemophilia A.Deep intronic variations may cause mild hemophilia A.The natural history of mild haemophilia: a 30-year single centre experience.Risk of inhibitor development in mild haemophilia A increases with age.Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Molecular mechanisms of mild and moderate hemophilia A.
@ast
Molecular mechanisms of mild and moderate hemophilia A.
@en
type
label
Molecular mechanisms of mild and moderate hemophilia A.
@ast
Molecular mechanisms of mild and moderate hemophilia A.
@en
prefLabel
Molecular mechanisms of mild and moderate hemophilia A.
@ast
Molecular mechanisms of mild and moderate hemophilia A.
@en
P2093
P2860
P1476
Molecular mechanisms of mild and moderate hemophilia A.
@en
P2093
De Maeyer M
Jacquemin M
Lavend'Homme R
Peerlinck K
Saint-Remy JM
P2860
P304
P356
10.1046/J.1538-7836.2003.00088.X
P577
2003-03-01T00:00:00Z