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Volumn 57, Issue 1, 1998, Pages 62-67

Giant platelet disorder in a patient with type 2B von Willebrand's disease

Author keywords

Giant platelets; Thrombocytopenia; Von Willebrand's disease

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; GENE MUTATION; GENE SEQUENCE; GIANT CELL; HETEROZYGOSITY; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; THROMBOCYTE COUNT; THROMBOCYTE FUNCTION; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE;

EID: 0031964181     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199801)57:1<62::AID-AJH11>3.0.CO;2-B     Document Type: Article
Times cited : (13)

References (17)
  • 1
    • 0027481159 scopus 로고
    • Pseudo-von Willebrand disease: A mutation in the platelet glycoprotein Ibα gene associated with a hyperactive surface receptor
    • Russell SD, Roth GJ: Pseudo-von Willebrand disease: A mutation in the platelet glycoprotein Ibα gene associated with a hyperactive surface receptor. Blood 81:1787-1791, 1993.
    • (1993) Blood , vol.81 , pp. 1787-1791
    • Russell, S.D.1    Roth, G.J.2
  • 2
    • 0025732427 scopus 로고
    • The molecular basis of von Willebrand disease type IIB: Candidate mutations cluster in one disulfide loop between platelet GPIb binding sequences
    • Randi AM, Rabinowitz R, Manusco DJ, Mannucci PM, Sadler JE: The molecular basis of von Willebrand disease type IIB: Candidate mutations cluster in one disulfide loop between platelet GPIb binding sequences. J Clin Invest 87:1227-1233, 1991.
    • (1991) J Clin Invest , vol.87 , pp. 1227-1233
    • Randi, A.M.1    Rabinowitz, R.2    Manusco, D.J.3    Mannucci, P.M.4    Sadler, J.E.5
  • 3
    • 0025869633 scopus 로고
    • The molecular defect in type IIB von Willebrand disease: Identification of four potential missense mutations within the putative GpIb binding domain
    • Cooney KA, Nichols WC, Bruck ME, Bahou WF, Shapiro AD, Bowie EJW, Gralnick HR, Ginsburg D: The molecular defect in type IIB von Willebrand disease: Identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest 87:1227-1233, 1991.
    • (1991) J Clin Invest , vol.87 , pp. 1227-1233
    • Cooney, K.A.1    Nichols, W.C.2    Bruck, M.E.3    Bahou, W.F.4    Shapiro, A.D.5    Bowie, E.J.W.6    Gralnick, H.R.7    Ginsburg, D.8
  • 4
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease. for the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
    • Sadler E: A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 71:520-525, 1994.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, E.1
  • 6
    • 0021839268 scopus 로고
    • Type IIB Tampa: A new variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation
    • Saba HI, Saba SR, Dent J, Ruggeri ZM, Zimmerman TS: Type IIB Tampa: A new variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood 66:282-286, 1985.
    • (1985) Blood , vol.66 , pp. 282-286
    • Saba, H.I.1    Saba, S.R.2    Dent, J.3    Ruggeri, Z.M.4    Zimmerman, T.S.5
  • 7
    • 0026346909 scopus 로고
    • Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease
    • Lillicrap D, Murray EW, Benford K, Blanchette VS, Rivard GE, Wensley R, Giles AR: Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease. Br J Haematol 79:612-617, 1991.
    • (1991) Br J Haematol , vol.79 , pp. 612-617
    • Lillicrap, D.1    Murray, E.W.2    Benford, K.3    Blanchette, V.S.4    Rivard, G.E.5    Wensley, R.6    Giles, A.R.7
  • 8
  • 9
    • 0026547287 scopus 로고
    • Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease
    • Murray EW, Giles AR, Lillicrap D: Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. Am J Hum Genet 50:199-207, 1992.
    • (1992) Am J Hum Genet , vol.50 , pp. 199-207
    • Murray, E.W.1    Giles, A.R.2    Lillicrap, D.3
  • 10
    • 0028212806 scopus 로고
    • Seeming homozygosity in type IIB von Willebrand's due to a polymorphism within the sequence of a commonly used primer
    • Eikenboom, JCJ, Reitsma PH, Briet E: Seeming homozygosity in type IIB von Willebrand's due to a polymorphism within the sequence of a commonly used primer. Ann Hematol 68:139-141, 1994.
    • (1994) Ann Hematol , vol.68 , pp. 139-141
    • Eikenboom, J.C.J.1    Reitsma, P.H.2    Briet, E.3
  • 11
    • 0015404446 scopus 로고
    • The increased percentage of megathrombocytes in various clinical disorders
    • Garg SK, Lackner H, Karpatkin S: The increased percentage of megathrombocytes in various clinical disorders. Ann Int Med 77:361-369, 1972.
    • (1972) Ann Int Med , vol.77 , pp. 361-369
    • Garg, S.K.1    Lackner, H.2    Karpatkin, S.3
  • 12
    • 0017808891 scopus 로고
    • Hypersplenic thrombocytopenia differentiated from increased peripheral destruction by platelet volume
    • Karpatkin S, Freedman ML: Hypersplenic thrombocytopenia differentiated from increased peripheral destruction by platelet volume. Ann Int Med 89:200-203, 1978.
    • (1978) Ann Int Med , vol.89 , pp. 200-203
    • Karpatkin, S.1    Freedman, M.L.2
  • 13
    • 0025008774 scopus 로고
    • Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes
    • Greinacher A, Mueller-Eckhardt: Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut 60:53-60, 1990.
    • (1990) Blut , vol.60 , pp. 53-60
    • Greinacher, A.1    Mueller-Eckhardt2
  • 14
    • 0028075823 scopus 로고
    • Inherited giant platelet disorders
    • Jantunen E: Inherited giant platelet disorders. Eur J Haematol 53:191-196, 1994.
    • (1994) Eur J Haematol , vol.53 , pp. 191-196
    • Jantunen, E.1
  • 15
    • 0021324548 scopus 로고
    • Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS)
    • Milton JG, Frojmovic MM, Tang SS, White JG: Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). Am J Pathol 114:336-345, 1984.
    • (1984) Am J Pathol , vol.114 , pp. 336-345
    • Milton, J.G.1    Frojmovic, M.M.2    Tang, S.S.3    White, J.G.4
  • 16
    • 0021889048 scopus 로고
    • The Hermansky-Pudlak Syndrome
    • Depinho R and Kaplan KL: The Hermansky-Pudlak Syndrome. Medicine 64:192-202, 1985.
    • (1985) Medicine , vol.64 , pp. 192-202
    • Depinho, R.1    Kaplan, K.L.2
  • 17
    • 0025141664 scopus 로고
    • Genetic thrombocytopenia with autosomal dominant transmission: A review of 54 cases
    • Najean Y, Lecompte T: Genetic thrombocytopenia with autosomal dominant transmission: A review of 54 cases. Br J Haematol 74:203-208, 1990.
    • (1990) Br J Haematol , vol.74 , pp. 203-208
    • Najean, Y.1    Lecompte, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.