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Volumn 93, Issue 10, 2008, Pages 1582-1584

Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTOPORPHYRIN;

EID: 54349088475     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12597     Document Type: Letter
Times cited : (8)

References (12)
  • 2
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    • Congenital sideroblastic anemias
    • Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep 2006;5:41-9.
    • (2006) Curr Hematol Rep , vol.5 , pp. 41-49
    • Bottomley, S.S.1
  • 3
    • 34147171967 scopus 로고    scopus 로고
    • Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts)
    • Steensma DP, Hecksel KA, Porcher JC, Lasho TL. Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). Leuk Res 2007;31:623-8.
    • (2007) Leuk Res , vol.31 , pp. 623-628
    • Steensma, D.P.1    Hecksel, K.A.2    Porcher, J.C.3    Lasho, T.L.4
  • 4
    • 37049019507 scopus 로고    scopus 로고
    • Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
    • Holme SA, Worwood M, Anstey AV, Elder GH, Badminton MN. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood 2007;110: 4108-10.
    • (2007) Blood , vol.110 , pp. 4108-4110
    • Holme, S.A.1    Worwood, M.2    Anstey, A.V.3    Elder, G.H.4    Badminton, M.N.5
  • 7
    • 0015581453 scopus 로고
    • Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure
    • Scott AJ, Ansford AJ, Webster BH, Stringer HC. Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med 1973;54:251-9.
    • (1973) Am J Med , vol.54 , pp. 251-259
    • Scott, A.J.1    Ansford, A.J.2    Webster, B.H.3    Stringer, H.C.4
  • 9
    • 0031779289 scopus 로고    scopus 로고
    • Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria
    • Rufenacht UB, Gouya L, Schneider-Yin X, Puy H, Schafer BW, Aquaron R, et al. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. Am J Hum Genet 1998;62:1341-52.
    • (1998) Am J Hum Genet , vol.62 , pp. 1341-1352
    • Rufenacht, U.B.1    Gouya, L.2    Schneider-Yin, X.3    Puy, H.4    Schafer, B.W.5    Aquaron, R.6
  • 10
    • 33845536988 scopus 로고    scopus 로고
    • Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria
    • Di Pierro E, Brancaleoni V, Moriondo V, Besana V, Cappellini MD. Co-existence of two functional mutations on the same allele of the human ferrochelatase gene in erythropoietic protoporphyria. Clin Genet 2007;71:84-8.
    • (2007) Clin Genet , vol.71 , pp. 84-88
    • Di Pierro, E.1    Brancaleoni, V.2    Moriondo, V.3    Besana, V.4    Cappellini, M.D.5
  • 11
    • 0033813299 scopus 로고    scopus 로고
    • New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
    • Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr 2000;159:719-25.
    • (2000) Eur J Pediatr , vol.159 , pp. 719-725
    • Schneider-Yin, X.1    Gouya, L.2    Meier-Weinand, A.3    Deybach, J.C.4    Minder, E.I.5
  • 12
    • 33947223723 scopus 로고    scopus 로고
    • Congenital erythropoietic porphyria due to a mutation in GATA1: The first trans-acting mutation causative for a human porphyria
    • Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood 2007;109:2618-21.
    • (2007) Blood , vol.109 , pp. 2618-2621
    • Phillips, J.D.1    Steensma, D.P.2    Pulsipher, M.A.3    Spangrude, G.J.4    Kushner, J.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.