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Journal Abstract Search

132 related items for PubMed ID: 22166512

  • 21. [Portal-splenic-mesenteric venous thrombosis in a patients with protein S deficiency due to novel PROS1 gene mutation].
    Hwang ET, Kang WS, Park JW, Lee JH, Han HJ, Shin SY, Kim HJ, Choi JS.
    Korean J Gastroenterol; 2014 Aug; 64(2):110-4. PubMed ID: 25168054
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  • 23. Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency.
    Xu F, Zhou X, Jin Y, Yang L, Pan J, Wang M, Chen X.
    Ann Hematol; 2024 Feb; 103(2):653-662. PubMed ID: 38175252
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  • 24. A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene.
    Nakahara M, Iida H, Urata M, Fujise M, Wakiyama M, Kinoshita S, Tsuda H, Okamura T, Yao K, Yao T, Hamasaki N.
    Thromb Res; 2001 Mar 01; 101(5):387-93. PubMed ID: 11297755
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  • 26. 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, Souto JC, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 2000 Mar 01; 15(5):463-73. PubMed ID: 10790208
    [Abstract] [Full Text] [Related]

  • 27. The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency.
    Seo JY, Lee KO, Kim SH, Oh D, Kim DK, Kim HJ.
    Gene; 2014 Sep 01; 547(2):295-9. PubMed ID: 24992033
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  • 28. Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).
    Taniguchi F, Morishita E, Sekiya A, Nomoto H, Katsu S, Kaneko S, Asakura H, Ohtake S.
    Thromb Res; 2017 Mar 01; 151():8-16. PubMed ID: 28088608
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  • 30. [Pedigree survey in a family with hereditary protein S deficiency].
    Huang KY, Kong LQ, Wu Z, Wen X, Zhao J, Zhang HC, Xu Y, Long XJ, Kang Y.
    Zhonghua Xin Xue Guan Bing Za Zhi; 2016 Sep 24; 44(9):782-785. PubMed ID: 27667277
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  • 33. [Exhaustive analysis of genetic mutations associated with protein S deficiency utilizing next-generation sequencing analysis].
    Ichiki A, Inaba H, Shinozawa K, Amano K, Fukutake K.
    Rinsho Ketsueki; 2019 Sep 24; 60(3):171-183. PubMed ID: 31068512
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  • 34. A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort.
    Beauchamp NJ, Daly ME, Makris M, Preston FE, Peake IR.
    Thromb Haemost; 1998 Jun 24; 79(6):1086-91. PubMed ID: 9657428
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  • 35. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
    Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 1999 Jun 24; 14(1):30-9. PubMed ID: 10447256
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  • 37. Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.
    Yamanouchi J, Hato T, Tamura T, Fujiwara H, Yakushijin Y, Yasukawa M.
    Int J Hematol; 2009 Nov 24; 90(4):537-539. PubMed ID: 19826897
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  • 38. A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency.
    Jang MJ, Lee JG, Chong SY, Huh JY, Jang MA, Kim HJ, Oh D.
    Blood Coagul Fibrinolysis; 2011 Dec 24; 22(8):742-5. PubMed ID: 21885952
    [Abstract] [Full Text] [Related]

  • 39. Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree.
    Yu T, Wang X, Ding Q, Fu Q, Dai J, Lu Y, Xi X, Wang H.
    Haemophilia; 2009 Nov 24; 15(6):1262-6. PubMed ID: 19601987
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