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Volumn 75, Issue 4, 1996, Pages 546-550

Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: Identification of twelve different mutations in the WASP gene

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE;

EID: 9244222658     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650318     Document Type: Article
Times cited : (23)

References (17)
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    • Wiskott, A.1
  • 2
    • 0001102239 scopus 로고
    • Pedigree demonstrating a sexlinked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea
    • Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sexlinked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 1954; 13: 133-9.
    • (1954) Pediatrics , vol.13 , pp. 133-139
    • Aldrich, R.A.1    Steinberg, A.G.2    Campbell, D.C.3
  • 3
    • 0014218102 scopus 로고
    • Sex-linked hereditary tnrombocytopenia as a variant of Wiskott-Aldrich syndrome
    • Canales L, Mauer AM. Sex-linked hereditary tnrombocytopenia as a variant of Wiskott-Aldrich syndrome. New Engl J Med 1967; 277: 899-901.
    • (1967) New Engl J Med , vol.277 , pp. 899-901
    • Canales, L.1    Mauer, A.M.2
  • 5
    • 0025819137 scopus 로고
    • X-linked thrombocytopenia and thrombocytopathia; attenuated Wiskott-Aldrich syndrome
    • Stormorken H, Helium B, Egeland T, Abrahamsen TG, Hovig J. X-linked thrombocytopenia and thrombocytopathia; attenuated Wiskott-Aldrich syndrome. Thromb Haemost 1991; 65: 300-5.
    • (1991) Thromb Haemost , vol.65 , pp. 300-305
    • Stormorken, H.1    Helium, B.2    Egeland, T.3    Abrahamsen, T.G.4    Hovig, J.5
  • 6
    • 0023192321 scopus 로고
    • Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome
    • Peacocke M, Siminovitch KA. Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Nat Acad Sci 1987; 84: 3430-3
    • (1987) Proc Nat Acad Sci , vol.84 , pp. 3430-3433
    • Peacocke, M.1    Siminovitch, K.A.2
  • 8
    • 0026504641 scopus 로고
    • Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE 3, which map to the Xp11.3-p11.22 region
    • Cremin S, Greer WL, Bodok-Nutzati R, Schwartz M, Peacocke M, Siminovitch KA. Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE 3, which map to the Xp11.3-p11.22 region. Human Genet 1992; 88: 453-6.
    • (1992) Human Genet , vol.88 , pp. 453-456
    • Cremin, S.1    Greer, W.L.2    Bodok-Nutzati, R.3    Schwartz, M.4    Peacocke, M.5    Siminovitch, K.A.6
  • 9
    • 0024267689 scopus 로고
    • Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome
    • Donnér M, Schwartz M, Carlsson KU, Holmberg L. Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome. Blood 1988; 72: 1849-53.
    • (1988) Blood , vol.72 , pp. 1849-1853
    • Donnér, M.1    Schwartz, M.2    Carlsson, K.U.3    Holmberg, L.4
  • 10
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Deny JMJ, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994; 78: 635-44.
    • (1994) Cell , vol.78 , pp. 635-644
    • Deny, J.M.J.1    Ochs, H.D.2    Francke, U.3
  • 11
    • 0029074506 scopus 로고
    • Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene
    • Kwan SP, Hagemann TL, Radtke BE, Blaese M, Rosen FS. Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene. Proc Natl Acad Sci 1995; 92: 4706-10.
    • (1995) Proc Natl Acad Sci , vol.92 , pp. 4706-4710
    • Kwan, S.P.1    Hagemann, T.L.2    Radtke, B.E.3    Blaese, M.4    Rosen, F.S.5
  • 13
  • 15
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    • A suggested nomenclature for designating mutations
    • Beaudet AL, Tsui L-C. A suggested nomenclature for designating mutations. Hum Mutat 1993; 2: 245-8.
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.-C.2
  • 16
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    • Familial sex-linked thrombocytopenia
    • Vestermark B, Vestermark S. Familial sex-linked thrombocytopenia. Acta Paediat 1964; 53: 365-70.
    • (1964) Acta Paediat , vol.53 , pp. 365-370
    • Vestermark, B.1    Vestermark, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.