메뉴 건너뛰기




Volumn 2, Issue 3, 2014, Pages 240-244

Candidate gene analysis using genomic quantitative pcr: Identification of adamts13 large deletions in two patients with upshaw-schulman syndrome

Author keywords

ADAMTS13; Genetic analysis; Hereditary disease; Mutation; Quantitative PCR; Thrombotic thrombocytopenic purpura; Upshaw Schulman syndrome

Indexed keywords


EID: 84959572715     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.64     Document Type: Article
Times cited : (4)

References (11)
  • 1
    • 0036132882 scopus 로고    scopus 로고
    • Real-time quantitative polymerase chain reaction: A potential tool for genetic analysis in neuropathology
    • Aldape, K., D. G. Ginzinger, and T. E. Godfrey. 2002. Real-time quantitative polymerase chain reaction: a potential tool for genetic analysis in neuropathology. Brain Pathol. 12:54–66.
    • (2002) Brain Pathol , vol.12 , pp. 54-66
    • Aldape, K.1    Ginzinger, D.G.2    Godfrey, T.E.3
  • 2
    • 79960635121 scopus 로고    scopus 로고
    • Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan
    • Suppl. 1
    • Fujimura, Y., M. Matsumoto, A. Isonishi, H. Yagi, K. Kokame, K. Soejima, et al. 2011. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J. Thromb. Haemost. 9(Suppl. 1):283–301.
    • (2011) J. Thromb. Haemost. , vol.9 , pp. 283-301
    • Fujimura, Y.1    Matsumoto, M.2    Isonishi, A.3    Yagi, H.4    Kokame, K.5    Soejima, K.6
  • 3
    • 84874733722 scopus 로고    scopus 로고
    • Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura
    • Hing, Z. A., T. Schiller, A. Wu, N. Hamasaki-Katagiri, E. B. Struble, E. Russek-Cohen, et al. 2013. Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura. Br. J. Haematol. 160:825–837.
    • (2013) Br. J. Haematol. , vol.160 , pp. 825-837
    • Hing, Z.A.1    Schiller, T.2    Wu, A.3    Hamasaki-Katagiri, N.4    Struble, E.B.5    Russek-Cohen, E.6
  • 4
    • 0346095394 scopus 로고    scopus 로고
    • Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
    • Kokame, K., and T. Miyata. 2004. Genetic defects leading to hereditary thrombotic thrombocytopenic purpura. Semin. Hematol. 41:34–40.
    • (2004) Semin. Hematol. , vol.41 , pp. 34-40
    • Kokame, K.1    Miyata, T.2
  • 5
    • 0037015057 scopus 로고    scopus 로고
    • Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
    • Kokame, K., M. Matsumoto, K. Soejima, H. Yagi, H. Ishizashi, M. Funato, et al. 2002. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. Proc. Natl. Acad. Sci. USA 99:11902–11907.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 11902-11907
    • Kokame, K.1    Matsumoto, M.2    Soejima, K.3    Yagi, H.4    Ishizashi, H.5    Funato, M.6
  • 6
    • 80051590576 scopus 로고    scopus 로고
    • Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome
    • Kokame, K., Y. Kokubo, and T. Miyata. 2011. Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome. J. Thromb. Haemost. 9:1654–1656.
    • (2011) J. Thromb. Haemost. , vol.9 , pp. 1654-1656
    • Kokame, K.1    Kokubo, Y.2    Miyata, T.3
  • 7
    • 84863284772 scopus 로고    scopus 로고
    • Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia
    • Kuramitsu, M., A. Sato-Otsubo, T. Morio, M. Takagi, T. Toki, K. Terui, et al. 2012. Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia. Blood 119:2376–2384.
    • (2012) Blood , vol.119 , pp. 2376-2384
    • Kuramitsu, M.1    Sato-Otsubo, A.2    Morio, T.3    Takagi, M.4    Toki, T.5    Terui, K.6
  • 8
    • 0035807348 scopus 로고    scopus 로고
    • Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
    • Levy, G. G., W. C. Nichols, E. C. Lian, T. Foroud, J. N. McClintick, B. M. McGee, et al. 2001. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413:488–494.
    • (2001) Nature , vol.413 , pp. 488-494
    • Levy, G.G.1    Nichols, W.C.2    Lian, E.C.3    Foroud, T.4    McClintick, J.N.5    McGee, B.M.6
  • 9
    • 74049137935 scopus 로고    scopus 로고
    • ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
    • Lotta, L. A., I. Garagiola, R. Palla, A. Cairo, and F. Peyvandi. 2010. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum. Mutat. 31:11–19.
    • (2010) Hum. Mutat. , vol.31 , pp. 11-19
    • Lotta, L.A.1    Garagiola, I.2    Palla, R.3    Cairo, A.4    Peyvandi, F.5
  • 10
    • 10744226155 scopus 로고    scopus 로고
    • Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome
    • Matsumoto, M., K. Kokame, K. Soejima, M. Miura, S. Hayashi, Y. Fujii, et al. 2004. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood 103:1305–1310.
    • (2004) Blood , vol.103 , pp. 1305-1310
    • Matsumoto, M.1    Kokame, K.2    Soejima, K.3    Miura, M.4    Hayashi, S.5    Fujii, Y.6
  • 11
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten, J. P., C. J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, and G. Pals. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30:e57.
    • (2002) Nucleic Acids Res , vol.30 , pp. e57
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.