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Volumn 52, Issue 2-3, 2014, Pages 83-87

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy

Author keywords

Hereditary hemochromatosis; Iron overload; Mediterranean area; Non HFE hereditary hemochromatosis; Novel mutations; TFR2

Indexed keywords

ARTICLE; CLINICAL ARTICLE; ETHNIC GROUP; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; IRON OVERLOAD; ITALIAN; ITALY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TFR2 GENE;

EID: 84891901924     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.08.003     Document Type: Article
Times cited : (19)

References (21)
  • 2
    • 0344514886 scopus 로고    scopus 로고
    • Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload
    • Biasiotto G., Belloli S., Ruggeri G., Zanella I., Gerardi G., Corrado M., Gobbi E., Albertini A., Arosio P. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin. Chem. 2003, 49:1981-1988.
    • (2003) Clin. Chem. , vol.49 , pp. 1981-1988
    • Biasiotto, G.1    Belloli, S.2    Ruggeri, G.3    Zanella, I.4    Gerardi, G.5    Corrado, M.6    Gobbi, E.7    Albertini, A.8    Arosio, P.9
  • 5
    • 79958060912 scopus 로고    scopus 로고
    • Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study
    • Del Castillo-Rueda A., Moreno-Carralero M.I., Cuadrado-Grande N., Méndez M., Morán-Jiménez M.J. Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study. Med. Clin. (Barc.) 2011, 137:68-72.
    • (2011) Med. Clin. (Barc.) , vol.137 , pp. 68-72
    • Del Castillo-Rueda, A.1    Moreno-Carralero, M.I.2    Cuadrado-Grande, N.3    Méndez, M.4    Morán-Jiménez, M.J.5
  • 7
    • 43449119544 scopus 로고    scopus 로고
    • Early-onset haemochromatosis caused by a novel combination of TFR2 mutations (p.R396X/c.1538-2 A>G) in a woman of Italian descent
    • Gérolami V., Le Gac G., Mercier L., Nezri M., Bergé-Lefranc J.L., Férec C. Early-onset haemochromatosis caused by a novel combination of TFR2 mutations (p.R396X/c.1538-2 A>G) in a woman of Italian descent. Haematologica 2008, 93:45-46.
    • (2008) Haematologica , vol.93 , pp. 45-46
    • Gérolami, V.1    Le Gac, G.2    Mercier, L.3    Nezri, M.4    Bergé-Lefranc, J.L.5    Férec, C.6
  • 9
    • 34347369737 scopus 로고    scopus 로고
    • A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis
    • Hsiao P.J., Tsai K.B., Shin S.J., Wang C.L., Lee S.T., Lee J.F., Kuo K.K. A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis. J. Hepatol. 2007, 47:303-306.
    • (2007) J. Hepatol. , vol.47 , pp. 303-306
    • Hsiao, P.J.1    Tsai, K.B.2    Shin, S.J.3    Wang, C.L.4    Lee, S.T.5    Lee, J.F.6    Kuo, K.K.7
  • 11
    • 31144454607 scopus 로고    scopus 로고
    • Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R
    • Lee P.L., Barton J.C. Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. Acta Haematol. 2006, 115:102-105.
    • (2006) Acta Haematol. , vol.115 , pp. 102-105
    • Lee, P.L.1    Barton, J.C.2
  • 12
    • 2942582341 scopus 로고    scopus 로고
    • Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
    • Le Gac G., Mons F., Jacolot S., Scotet V., Férec C., Frébourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br. J. Haematol. 2004, 125:674-678.
    • (2004) Br. J. Haematol. , vol.125 , pp. 674-678
    • Le Gac, G.1    Mons, F.2    Jacolot, S.3    Scotet, V.4    Férec, C.5    Frébourg, T.6
  • 14
    • 59449107280 scopus 로고    scopus 로고
    • Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2
    • Pelucchi S., Mariani R., Trombini P., Coletti S., Pozzi M., Paolini V., Barisani D., Piperno A. Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. Haematologica 2009, 94:276-279.
    • (2009) Haematologica , vol.94 , pp. 276-279
    • Pelucchi, S.1    Mariani, R.2    Trombini, P.3    Coletti, S.4    Pozzi, M.5    Paolini, V.6    Barisani, D.7    Piperno, A.8
  • 15
    • 28444436913 scopus 로고    scopus 로고
    • Non-HFE hemochromatosis
    • Pietrangelo A. Non-HFE hemochromatosis. Semin. Liver Dis. 2005, 25:450-460.
    • (2005) Semin. Liver Dis. , vol.25 , pp. 450-460
    • Pietrangelo, A.1
  • 19
    • 0035049344 scopus 로고    scopus 로고
    • Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
    • Lee P.L., Halloran C., West C., Beutler E. Mutation analysis of the transferrin receptor-2 gene in patients with iron overload. Blood Cells Mol. Dis. 2001, 27:285-289.
    • (2001) Blood Cells Mol. Dis. , vol.27 , pp. 285-289
    • Lee, P.L.1    Halloran, C.2    West, C.3    Beutler, E.4
  • 21
    • 0036682965 scopus 로고    scopus 로고
    • Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis
    • Hofmann W.K., Tong X.J., Ajioka R.S., Kushner J.P., Koeffler H.P. Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. Blood 2002, 100:1099-1100.
    • (2002) Blood , vol.100 , pp. 1099-1100
    • Hofmann, W.K.1    Tong, X.J.2    Ajioka, R.S.3    Kushner, J.P.4    Koeffler, H.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.