Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
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In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Molecular pathology of haemophilia BApplication of three intragenic DNA polymorphisms for carrier detection in haemophilia B.Haemophilia A and haemophilia B: molecular insightsCharacterization of the clotting activities of structurally different forms of activated factor IX. Enzymatic properties of normal human factor IXa alpha, factor IXa beta, and activated factor IX Chapel Hill.Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site.Haemophilia B (sixth edition): a database of point mutations and short additions and deletionsCarrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX geneHaemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993Why does the human factor IX gene have a G + C content of 40%?Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.The pattern of factor IX germ-line mutation in Asians is similar to that of CaucasiansAn insertion within the factor IX gene: hemophilia BEl Salvador.Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspotsHaemophilia B: database of point mutations and short additions and deletionsHaemophilia B: database of point mutations and short additions and deletions--second edition.Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992.A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanismMolecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursorEvidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothroInfluence of factor IX on overall plasma coagulability and fibrinolytic potential as measured by global assay: monitoring in haemophilia B.First Diagnosis of Hemophilia B in a Nonagenarian.A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm.Factor IX Kawachinagano: impaired function of the Gla-domain caused by attached propeptide region due to substitution of arginine by glutamine at position -4.Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145.Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw.Determination of factor IX allotypes for carrier identification in haemophilia B.Haemophilia A and haemophilia B: molecular insights.HB Mississippi [β44(CD3)SeråG]: A New Variant with Anomalous Properties
P2860
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P2860
Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on July 1983
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Identification of the molecula ...... for arginine at position 145.
@en
Identification of the molecula ...... for arginine at position 145.
@nl
type
label
Identification of the molecula ...... for arginine at position 145.
@en
Identification of the molecula ...... for arginine at position 145.
@nl
prefLabel
Identification of the molecula ...... for arginine at position 145.
@en
Identification of the molecula ...... for arginine at position 145.
@nl
P2093
P2860
P356
P1476
Identification of the molecula ...... for arginine at position 145.
@en
P2093
H R Roberts
M J Griffith
R L Lundblad
P2860
P304
P356
10.1073/PNAS.80.14.4200
P407
P577
1983-07-01T00:00:00Z