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Volumn 95, Issue 4, 2010, Pages 689-690

Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia - do we have to screen?

Author keywords

Bone marrow failure; Childhood; Myelodysplastic syndrome

Indexed keywords

FLUDARABINE; GENE PRODUCT; GENOMIC DNA; LEUCINE; SHWACHMAN PROTEIN; THIOTEPA; UNCLASSIFIED DRUG; VALINE;

EID: 77950676447     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.015008     Document Type: Letter
Times cited : (10)

References (10)
  • 1
    • 33745502895 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Shimamura A. Shwachman-Diamond syndrome. Semin Hematol. 2006;43(3):178-88.
    • (2006) Semin Hematol , vol.43 , Issue.3 , pp. 178-88
    • Shimamura, A.1
  • 5
    • 9444291841 scopus 로고    scopus 로고
    • Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
    • Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood 2004;104(12):3588-90.
    • (2004) Blood , vol.104 , Issue.12 , pp. 3588-90
    • Woloszynek, J.R.1    Rothbaum, R.J.2    Rawls, A.S.3    Minx, P.J.4    Wilson, R.K.5    Mason, P.J.6
  • 6
    • 21244435619 scopus 로고    scopus 로고
    • Genetic analysis of Shwachman-Diamond syndrome: Phenotypic heterogeneity in patients carrying identical SBDS mutations
    • Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, et al. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. Tohoku J Exp Med. 2005;206(3):253-9.
    • (2005) Tohoku J Exp Med , vol.206 , Issue.3 , pp. 253-259
    • Kawakami, T.1    Mitsui, T.2    Kanai, M.3    Shirahata, E.4    Sendo, D.5    Kanno, M.6
  • 7
    • 1542375434 scopus 로고    scopus 로고
    • Novel SBDS mutations caused by gene con-version in Japanese patients with Shwachman-Diamond syn-drome
    • Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, et al. Novel SBDS mutations caused by gene con-version in Japanese patients with Shwachman-Diamond syn-drome. Hum Genet. 2004;114(4):345-8.
    • (2004) Hum Genet , vol.114 , Issue.4 , pp. 345-348
    • Nakashima, E.1    Mabuchi, A.2    Makita, Y.3    Masuno, M.4    Ohashi, H.5    Nishimura, G.6
  • 8
    • 33745504494 scopus 로고    scopus 로고
    • Identification of novel mutations in patients with Shwachman-Diamond syn-drome
    • Nicolis E, Bonizzato A, Assael BM, Cipolli M. Identification of novel mutations in patients with Shwachman-Diamond syn-drome. Hum Mutat. 2005;25(4):410.
    • (2005) Hum Mutat , vol.25 , Issue.4 , pp. 410
    • Nicolis, E.1    Bonizzato, A.2    Assael, B.M.3    Cipolli, M.4
  • 10
    • 50049114380 scopus 로고    scopus 로고
    • Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syn-drome
    • Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, et al. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syn-drome. Bone Marrow Transplant. 2008;42(3):159-65.
    • (2008) Bone Marrow Transplant , vol.42 , Issue.3 , pp. 159-65
    • Bhatla, D.1    Davies, S.M.2    Shenoy, S.3    Harris, R.E.4    Crockett, M.5    Shoultz, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.