Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.

Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.

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http://www.wikidata.org/entity/Q45865538
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.Haemophilia A and haemophilia B: molecular insightsFactor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional proteinMolecular mechanisms of mild and moderate hemophilia A.Gene therapy for haemophilia: prospects and challenges to prevent or reverse inhibitor formation.Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).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.Antioxidants reduce endoplasmic reticulum stress and improve protein secretion.Variation in baseline factor VIII concentration in a retrospective cohort of mild/moderate hemophilia A patients carrying identical F8 mutations.Development of factor VIII inhibitors in two patients with moderate haemophilia A.Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-->Ser mutation responsive to immune tolerance induction and cyclophosphamide.Factor VIII Antigen, Activity, and Mutations in Hemophilia A.Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)).Haemophilia A and haemophilia B: molecular insights.
P2860

Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A.

Item
http://www.wikidata.org/entity/Q45865538
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年學術文章
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... aterial-reduced haemophilia A.
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Intracellular accumulation of ...... material-reduced haemophilia A
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10.1046/J.1365-2141.2000.01834.X
P407
P433
P478
P50
P577
P5875
P698
P921