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Volumn 19, Issue 11, 2011, Pages

Clinical utility gene card for: Dyskeratosis congenita

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN; TELOMERASE; CELL CYCLE PROTEIN; DKC1 PROTEIN, HUMAN; NOLA2 PROTEIN, HUMAN; NOP10 PROTEIN, HUMAN; NUCLEAR PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEOLAR RIBONUCLEOPROTEIN; TELOMERE BINDING PROTEIN; TERT PROTEIN, HUMAN; TINF2 PROTEIN, HUMAN;

EID: 80054808620     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.90     Document Type: Article
Times cited : (24)

References (9)
  • 4
    • 58849153303 scopus 로고    scopus 로고
    • TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
    • Du HY, Pumbo E, Ivanovich J et al: TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113: 309-316
    • (2009) Blood , vol.113 , pp. 309-316
    • Du, H.Y.1    Pumbo, E.2    Ivanovich, J.3
  • 6
    • 67651230888 scopus 로고    scopus 로고
    • Dyskeratosis congenita: The first NIH clinical research workshop
    • Savage SA, Dokal I, Armanios M et al: Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer 2009; 53: 520-523
    • (2009) Pediatr Blood Cancer , vol.53 , pp. 520-523
    • Savage, S.A.1    Dokal, I.2    Armanios, M.3
  • 7
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
    • Vulliamy TJ, Marrone M, Knight S, Walne A, Mason PJ, Dokal I: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107: 2680-2685
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, M.2    Knight, S.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 8
    • 0034966374 scopus 로고    scopus 로고
    • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
    • Vulliamy TJ, Knight SW, Mason PJ, Dokal I: Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001; 27: 353-377
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 353-377
    • Vulliamy, T.J.1    Knight, S.W.2    Mason, P.J.3    Dokal, I.4
  • 9
    • 63149186313 scopus 로고    scopus 로고
    • Advances in the understanding of Dyskeratosis Congenita
    • Walne AJ, Dokal I: Advances in the understanding of Dyskeratosis Congenita. Br J Haematol 2009; 145: 164-172
    • (2009) Br J Haematol , vol.145 , pp. 164-172
    • Walne, A.J.1    Dokal, I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.