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Volumn 68, Issue 4, 2010, Pages 485-489

Usefulness of gray platelets observation in ARC syndrome;ARC syndrome et observation de plaquettes grises: Utilité diagnostique

Author keywords

ARC syndrome; Bleeding; Blood smear; Platelets

Indexed keywords

ARTICLE; BLOOD; CASE REPORT; CHOLESTASIS; CONSANGUINITY; FANCONI RENOTUBULAR SYNDROME; FATALITY; GENETICS; HUMAN; MALE; NEWBORN; PATHOLOGY; THROMBOCYTE;

EID: 77955914628     PISSN: 00033898     EISSN: 19506112     Source Type: Journal    
DOI: 10.1684/abc.2010.0453     Document Type: Article
Times cited : (3)

References (10)
  • 2
    • 12144290067 scopus 로고    scopus 로고
    • Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    • Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, et al Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004; 36: 400-404
    • (2004) Nat Genet , vol.36 , pp. 400-404
    • Gissen, P.1    Johnson, C.A.2    Morgan, N.V.3    Stapelbroek, J.M.4    Forshew, T.5    Cooper, W.N.6
  • 4
    • 28844469933 scopus 로고    scopus 로고
    • Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis
    • Lo B, Li L, Gissen P, Christensen H, McKiernan PJ, Ye C, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood 2005; 106: 4159-4166
    • (2005) Blood , vol.106 , pp. 4159-4166
    • Lo, B.1    Li, L.2    Gissen, P.3    Christensen, H.4    McKiernan, P.J.5    Ye, C.6
  • 5
    • 0023574858 scopus 로고
    • Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface
    • Rosa JP, George JN, Bainton DF, Nurden AT, Caen JP, McEver RP. Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. J Clin Invest 1987; 80: 1138-1146
    • (1987) J Clin Invest , vol.80 , pp. 1138-1146
    • Rosa, J.P.1    George, J.N.2    Bainton, D.F.3    Nurden, A.T.4    Caen, J.P.5    McEver, R.P.6
  • 6
    • 0034918524 scopus 로고    scopus 로고
    • A journey with platelet P-selectin: Ttthe molecular basis of granule secretion, signalling and cell adhesion
    • Furie B, Furie BC, Flaumenhaft R. A journey with platelet P-selectin: the molecular basis of granule secretion, signalling and cell adhesion. Thromb Haemost 2001; 86: 214-221
    • (2001) Thromb Haemost , vol.86 , pp. 214-221
    • Furie, B.1    Furie, B.C.2    Flaumenhaft, R.3
  • 7
    • 0031104729 scopus 로고    scopus 로고
    • Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency)
    • Lages B, Sussman II, Levine SP, Coletti D, Weiss HJ. Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency). J Lab Clin Med 1997; 129: 364-375
    • (1997) J Lab Clin Med , vol.129 , pp. 364-375
    • Lages, B.1    Sussman, I.I.2    Levine, S.P.3    Coletti, D.4    Weiss, H.J.5
  • 10
    • 41149116755 scopus 로고    scopus 로고
    • Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
    • Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, et al. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol 2008; 144: 334-340
    • (2008) Arch Dermatol , vol.144 , pp. 334-340
    • Hershkovitz, D.1    Mandel, H.2    Ishida-Yamamoto, A.3    Chefetz, I.4    Hino, B.5    Luder, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.