Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
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Genetic analysis of haemophilia A in BulgariaIdentification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization.Haemophilias: advances towards genetic engineering replacement therapy.Paradigms of sulfotransferase catalysis: the mechanism of SULT2A1.Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.HindIII-based restriction fragment length polymorphism in hemophilic and nonhemophilic patients.Structure-function relationship of bacterial prolipoprotein diacylglyceryl transferase: functionally significant conserved regions.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.Hemophilia A due to mutations that create new N-glycosylation sites.Current Practice in the Treatment of Haemophilia.The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4Rapid polymerase chain reaction analysis of St14 (DXS52) VNTR: carrier detection of hemophilia A.In silico analyses of missense mutations in coagulation factor VIII: identification of severity determinants of haemophilia A.GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin.Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients.Severe haemophilia A in a female resulting from two de novo factor VIII mutations.Genetic diagnosis of hemophilia A.Multiplex analysis of two intragenic microsatellite repeat polymorphisms in the genetic diagnosis of haemophilia A.Abnormal factor VIII Hiroshima: defect in crucial proteolytic cleavage by thrombin at Arg1689 detected by a novel ELISA.Factor VIII Antigen, Activity, and Mutations in Hemophilia A.Biological activity of recombinant factor VIII variants lacking the central B-domain and the heavy-chain sequence Lys713-Arg740: discordant in vitro and in vivo activity.Mutations in haemophilia A.Factor VIII gene deletions in haemophilia A patients in Czechoslovakia.Cytogenetic analysis of German shepherd dogs with haemophilia A.Twenty-one years of haemophilia.Current strategy for genetic analysis of haemophilia A families.Carrier detection and prenatal diagnosis by intron 22 inversion analysis of the factor VIII gene.Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
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P2860
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
Haemophilia A: database of nuc ...... ements of the factor VIII gene
@en
type
label
Haemophilia A: database of nuc ...... ements of the factor VIII gene
@en
prefLabel
Haemophilia A: database of nuc ...... ements of the factor VIII gene
@en
P2093
P2860
P921
P356
P1476
Haemophilia A: database of nuc ...... ements of the factor VIII gene
@en
P2093
Gitschier J
Kazazian HH
Tuddenham EG
Yoshioka A
P2860
P304
P356
10.1093/NAR/19.18.4821
P577
1991-09-01T00:00:00Z