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Volumn 101, Issue 5, 2009, Pages 977-979

First case of protein S deficiency due to a translocation t(3;21)(q11.2;q22)

Author keywords

[No Author keywords available]

Indexed keywords

ACENOCOUMAROL;

EID: 66149161784     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH08-12-0789     Document Type: Article
Times cited : (4)

References (15)
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  • 3
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    • Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification
    • DOI 10.1111/j.1365-2141.2005.05371.x
    • Brouwer JL, Veeger NJ, Schaaf W, et al. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification. Br J Haematol 2005; 128: 703-710. (Pubitemid 40343241)
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    • Brouwer, J.-L.P.1    Veeger, N.J.G.M.2    Van Der Schaaf, W.3    Kluin-Nelemans, H.C.4    Van Der Meer, J.5
  • 5
    • 0033678567 scopus 로고    scopus 로고
    • Protein S deficiency: A database of mutations - Summary of the first update
    • Gandrille S, Borgel D, Sala N, et al. Protein S deficiency: a database of mutations - summary of the first update. Thromb Haemost 2000; 84: 918.
    • (2000) Thromb Haemost , vol.84 , pp. 918
    • Gandrille, S.1    Borgel, D.2    Sala, N.3
  • 8
    • 27844561552 scopus 로고    scopus 로고
    • Large deletions of the PROSI gene in a large fraction of mutation-negative patients with protein S deficiency
    • DOI 10.1160/TH05-06-0392
    • Johansson AM, Hillarp A, Sall T, et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005; 94: 951-957. (Pubitemid 41645933)
    • (2005) Thrombosis and Haemostasis , vol.94 , Issue.5 , pp. 951-957
    • Johansson, A.M.1    Hillarp, A.2    Sall, T.3    Zoller, B.4    Dahlback, B.5    Hallden, C.6
  • 10
    • 47649101708 scopus 로고    scopus 로고
    • Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification
    • Choung HS, Kim HJ, Gwak GY, et al. Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification. J Thromb Haemost 2008; 6: 1430-1432.
    • (2008) J Thromb Haemost , vol.6 , pp. 1430-1432
    • Choung, H.S.1    Kim, H.J.2    Gwak, G.Y.3
  • 11
    • 0034087448 scopus 로고    scopus 로고
    • Optimization of a simple and rapid Single-Strand Conformation Analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants
    • Espinosa-Parrilla Y, Morell M, Borrell M, et al. Optimization of a simple and rapid Single-Strand Conformation Analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants. Hum Mutat 2000; 15: 463-473.
    • (2000) Hum Mutat , vol.15 , pp. 463-473
    • Espinosa-Parrilla, Y.1    Morell, M.2    Borrell, M.3
  • 12
    • 0033039927 scopus 로고    scopus 로고
    • Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
    • DOI 10.1002/(SICI)1098-1004(1999)14:1<30::AID-HUMU4>3.0.CO;2-X
    • Espinosa-Parrilla Y, Morell M, Souto JC, et al. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. Hum Mutat 1999; 14: 30-39. (Pubitemid 29309941)
    • (1999) Human Mutation , vol.14 , Issue.1 , pp. 30-39
    • Espinosa-Parrilla, Y.1    Morell, M.2    Souto, J.C.3    Tirado, I.4    Fontcuberta, J.5    Estivill, X.6    Sala, N.7
  • 13
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    • Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: A possible sign of aging rather than an indicator of carcinogenesis?
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    • (2007) Mol Carcinog , vol.46 , pp. 543-552
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  • 15
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    • Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15 and 21 leading to balanced and unbalanced rearrangements in offspring
    • Soler A, Sánchez A, Carrió A, et al. Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15 and 21 leading to balanced and unbalanced rearrangements in offspring. Am J Med Genet A 2005; 134: 309-314.
    • (2005) Am J Med Genet A , vol.134 , pp. 309-314
    • Soler, A.1    Sánchez, A.2    Carrió, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.