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Volumn 44, Issue 2, 2010, Pages 88-

Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; DYSKERIN; GENOMIC DNA; GLYCINE; THREONINE;

EID: 74849131327     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.10.005     Document Type: Letter
Times cited : (4)

References (6)
  • 2
    • 0034966374 scopus 로고    scopus 로고
    • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    • Vulliamy T.J., Knight S.W., Mason P.J., and Dokal I. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol. Dis. 27 2 (2001) 353-357
    • (2001) Blood Cells Mol. Dis. , vol.27 , Issue.2 , pp. 353-357
    • Vulliamy, T.J.1    Knight, S.W.2    Mason, P.J.3    Dokal, I.4
  • 3
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
    • Vulliamy T.J., Marrone A., Knight S.W., Walne A., Mason P.J., and Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 107 (2006) 2680-2685
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 4
    • 0033574503 scopus 로고    scopus 로고
    • Gleaning non-trivial structural, functional and evolutionary information about proteins by iterative database searches
    • Aravind L., and Koonin E.V. Gleaning non-trivial structural, functional and evolutionary information about proteins by iterative database searches. J. Mol. Biol. 16 287 5 (1999) 1023-1040
    • (1999) J. Mol. Biol. 16 , vol.287 , Issue.5 , pp. 1023-1040
    • Aravind, L.1    Koonin, E.V.2
  • 6
    • 3242656131 scopus 로고    scopus 로고
    • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
    • Mochizuki Y., He J., Kulkarni S., Bessler M., and Mason P.J. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl. Sci. U. S. A. 20 101 29 (2004) 10756-10761
    • (2004) Proc. Natl. Sci. U. S. A. 20 , vol.101 , Issue.29 , pp. 10756-10761
    • Mochizuki, Y.1    He, J.2    Kulkarni, S.3    Bessler, M.4    Mason, P.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.