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Volumn 157, Issue 4, 2012, Pages 514-516

The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload

Author keywords

Liver iron overload; Microcytic anaemia; SLC11A2; SLC11A2 DMT1

Indexed keywords

FERRIC HYDROXIDE; FERROUS SULFATE;

EID: 84860010841     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2012.09043.x     Document Type: Letter
Times cited : (9)

References (8)
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    • Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload
    • Beaumont, C., Delaunay, J., Hetet, G., Grandchamp, B., de Montalembert, M. & Tchernia, G. (2006) Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. Blood, 107, 4168-4170.
    • (2006) Blood , vol.107 , pp. 4168-4170
    • Beaumont, C.1    Delaunay, J.2    Hetet, G.3    Grandchamp, B.4    de Montalembert, M.5    Tchernia, G.6
  • 4
    • 70349454165 scopus 로고    scopus 로고
    • Mutations in the gene encoding DMT1: clinical presentation and treatment
    • Iolascon, A. & De Falco, L. (2009) Mutations in the gene encoding DMT1: clinical presentation and treatment. Seminars in Hematology, 46, 358-370.
    • (2009) Seminars in Hematology , vol.46 , pp. 358-370
    • Iolascon, A.1    De Falco, L.2
  • 5
    • 30144443274 scopus 로고    scopus 로고
    • Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)
    • Iolascon, A., d'Apolito, M., Servedio, V., Cimmino, F., Piga, A. & Camaschella, C. (2006) Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood, 107, 349-354.
    • (2006) Blood , vol.107 , pp. 349-354
    • Iolascon, A.1    d'Apolito, M.2    Servedio, V.3    Cimmino, F.4    Piga, A.5    Camaschella, C.6
  • 6
    • 63149128149 scopus 로고    scopus 로고
    • Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis
    • Iolascon, A., De Falco, L. & Beaumont, C. (2009) Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis. Haematologica, 94, 395-408.
    • (2009) Haematologica , vol.94 , pp. 395-408
    • Iolascon, A.1    De Falco, L.2    Beaumont, C.3
  • 7
    • 12844260664 scopus 로고    scopus 로고
    • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload
    • Mims, M.P., Guan, Y., Pospisilova, D., Priwitzerova, M., Indrak, K., Ponka, P., Divoky, V. & Prchal, J.T. (2005) Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood, 105, 1337-1342.
    • (2005) Blood , vol.105 , pp. 1337-1342
    • Mims, M.P.1    Guan, Y.2    Pospisilova, D.3    Priwitzerova, M.4    Indrak, K.5    Ponka, P.6    Divoky, V.7    Prchal, J.T.8
  • 8
    • 2342447226 scopus 로고    scopus 로고
    • Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells
    • Priwitzerova, M., Pospisilova, D., Prchal, J.T., Indrak, K., Hlobilkova, A., Mihal, V., Ponka, P. & Divoky, V. (2004) Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells. Blood, 103, 3991-3992.
    • (2004) Blood , vol.103 , pp. 3991-3992
    • Priwitzerova, M.1    Pospisilova, D.2    Prchal, J.T.3    Indrak, K.4    Hlobilkova, A.5    Mihal, V.6    Ponka, P.7    Divoky, V.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.