A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.
about
In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.Six amino acid residues in a 1200 Å2 interface mediate binding of factor VIII to an IgG4κ inhibitory antibody.Contribution of A1 subunit residue Q316 in thrombin-activated factor VIII to A2 subunit dissociation.Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A.First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations.Analysis of 18 novel mutations in the factor VIII gene.Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Mutation causing exon 15 skipping and partial exon 16 deletion in factor VIII transcript, and a method for direct mutation detection.Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.Differential contributions of Glu96, Asp102 and Asp111 to coagulation factor V/Va metal ion binding and subunit stability.
P2860
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P2860
A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh-hant
name
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@en
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@nl
type
label
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@en
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@nl
prefLabel
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@en
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@nl
P2093
P2860
P921
P1476
A domain mutations in 65 haemo ...... nctional factor VIII proteins.
@en
P2093
P2860
P304
P356
10.1046/J.1365-2141.1998.01122.X
P407
P577
1998-12-01T00:00:00Z