Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs.
about
Identification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A.Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMHLA-DR-restricted T-cell responses to factor VIII epitopes in a mild haemophilia A family with missense substitution A2201P.Mild hemophilia A.Hemophilia A: Dental considerations and management.Molecular mechanisms of mild and moderate hemophilia A.Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.Characterization of a genetically engineered mouse model of hemophilia A with complete deletion of the F8 gene.Joint protection in haemophilia.High-affinity von Willebrand factor binding does not affect the anatomical or hepatocellular distribution of factor VIII in rats.Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family.Deep intronic variations may cause mild hemophilia A.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management.
P2860
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P2860
Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh-hant
name
Characterization of mutations ...... ld and moderate haemophiliacs.
@en
Characterization of mutations ...... ld and moderate haemophiliacs.
@nl
type
label
Characterization of mutations ...... ld and moderate haemophiliacs.
@en
Characterization of mutations ...... ld and moderate haemophiliacs.
@nl
prefLabel
Characterization of mutations ...... ld and moderate haemophiliacs.
@en
Characterization of mutations ...... ld and moderate haemophiliacs.
@nl
P2093
P2860
P1476
Characterization of mutations ...... ld and moderate haemophiliacs.
@en
P2093
Brackman HH
Johnson DJ
Oldenburg J
Tuddenham EG
P2860
P304
P356
10.1111/J.1365-2141.1995.TB05322.X
P407
P577
1995-10-01T00:00:00Z