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Volumn 72, Issue 4, 2000, Pages 512-516

A new mutation, Ala1500 → Glu, responsible for type 2A von Willebrand disease

Author keywords

Expression; Genetic mutation; Site directed mutagenesis; Von willebrand disease

Indexed keywords

RECOMBINANT PROTEIN; VON WILLEBRAND FACTOR;

EID: 0034574016     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (9)
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    • Ginsburg, D.1    Handin, R.I.2    Bonthron, D.T.3
  • 2
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    • Of pre-pro-von Willebrand factor and its expression in heterologous cells
    • Bonthron DT, Handin RI, Kaufman RJ, et al. Of pre-pro-von Willebrand factor and its expression in heterologous cells. Nature. 1986;32:270-273.
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  • 3
    • 0028285840 scopus 로고
    • Commentary: A new classification for von Willebrand disease
    • Sadler JE, Gralnick HR. Commentary: a new classification for von Willebrand disease. Blood. 1994;84:676-679.
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    • Sadler, J.E.1    Gralnick, H.R.2
  • 4
    • 0027500241 scopus 로고
    • Von Willebrand disease: A database of point mutations, insertions and deletions
    • Ginsburg D, Sadler JE. Von Willebrand disease: a database of point mutations, insertions and deletions. Thromb Haemost. 1993; 69:177-184.
    • (1993) Thromb Haemost , vol.69 , pp. 177-184
    • Ginsburg, D.1    Sadler, J.E.2
  • 5
    • 0026630044 scopus 로고
    • Impaired intercellular transport produced by a subset of type IIA von Willebrand disease mutations
    • Lyons SE, Bruck ME, Bowie EJW, Ginsburg D. Impaired intercellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem. 1992;267:4424-4430.
    • (1992) J Biol Chem , vol.267 , pp. 4424-4430
    • Lyons, S.E.1    Bruck, M.E.2    Bowie, E.J.W.3    Ginsburg, D.4
  • 6
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    • Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: Studies with recombinant von Willebrand factor and correlation with patient characteristics
    • Englender T, Lattuada A, Mannucci PM, Sadler JE, Inbla A. Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics. Blood. 1996;87: 2788-2799.
    • (1996) Blood , vol.87 , pp. 2788-2799
    • Englender, T.1    Lattuada, A.2    Mannucci, P.M.3    Sadler, J.E.4    Inbla, A.5
  • 7
    • 0028293218 scopus 로고
    • Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations
    • Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D. Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood. 1994;83:1551-1557.
    • (1994) Blood , vol.83 , pp. 1551-1557
    • Lyons, S.E.1    Cooney, K.A.2    Bockenstedt, P.3    Ginsburg, D.4
  • 8
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    • Partial purification and characterization of a protease from human plasma, cleaving von Willebrand factor to fragment produced by in vivo proteolysis
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    • Furlan, M.1    Robles, R.2    Lämmle, B.3
  • 9
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    • Proteolytic cleavage of recombinant type 2A von Willebrand factor mutation R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1
    • Tsai HM, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutation R834W and R834Q: inhibition by doxycycline and by monoclonal antibody VP-1. Blood. 1997;89:1954-1962.
    • (1997) Blood , vol.89 , pp. 1954-1962
    • Tsai, H.M.1    Sussman, I.I.2    Ginsburg, D.3    Lankhof, H.4    Sixma, J.J.5    Nagel, R.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.