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Volumn 33, Issue 3, 2004, Pages 338-343

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele

Author keywords

DHPLC; Hemochromatosis; Hemojuvelin; Hepcidin; Iron; Modifier genes

Indexed keywords

HEPCIDIN; IRON;

EID: 7444240286     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.08.002     Document Type: Article
Times cited : (57)

References (24)
  • 1
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis-a new look at an old disease
    • A. Pietrangelo Hereditary hemochromatosis-a new look at an old disease N. Engl. J. Med. 350 2004 2383 2397
    • (2004) N. Engl. J. Med. , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 13
    • 2342656510 scopus 로고    scopus 로고
    • HAMP gene mutation c.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis
    • S. Majore, F. Binni, A. Pennese, A. De Santis, A. Crisi, and P. Grammatico HAMP gene mutation c.208T > C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis Hum. Mutat. 23 2004 400
    • (2004) Hum. Mutat. , vol.23 , pp. 400
    • Majore, S.1    Binni, F.2    Pennese, A.3    De Santis, A.4    Crisi, A.5    Grammatico, P.6
  • 16
    • 2942619988 scopus 로고    scopus 로고
    • Genetic abnormalities and juvenile hemochromatosis: Mutations of the HJV gene encoding hemojuvelin
    • P.L. Lee, E. Beutler, S.V. Rao, and J.C. Barton Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin Blood 103 2004 4669 4671
    • (2004) Blood , vol.103 , pp. 4669-4671
    • Lee, P.L.1    Beutler, E.2    Rao, S.V.3    Barton, J.C.4
  • 18
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    • S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, and C. Ferec HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood 103 2004 2835 2840
    • (2004) Blood , vol.103 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 19
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • G. Le Gac, V. Scotet, C. Ka, I. Gourlaouen, L. Bryckaert, S. Jacolot, C. Mura, and C. Ferec The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum. Mol. Genet. 13 2004 1913 1918
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3    Gourlaouen, I.4    Bryckaert, L.5    Jacolot, S.6    Mura, C.7    Ferec, C.8
  • 20
    • 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
    • G. Biasiotto, S. Belloli, G. Ruggeri, I. Zanella, G. Gerardi, M. Corrado, E. Gobbi, A. Albertini, and P. Arosio 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. 49 2003 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
  • 22
    • 0034999807 scopus 로고    scopus 로고
    • Denaturing high-performance liquid chromatography: A review
    • W. Xiao, and P.J. Oefner Denaturing high-performance liquid chromatography: a review Hum. Mutat. 17 2001 439 474
    • (2001) Hum. Mutat. , vol.17 , pp. 439-474
    • Xiao, W.1    Oefner, P.J.2
  • 24
    • 0035049344 scopus 로고    scopus 로고
    • Mutation analysis of the transferrin receptor-2 gene in patients with iron overload
    • P.L. Lee, C. Halloran, C. West, and E. Beutler Mutation analysis of the transferrin receptor-2 gene in patients with iron overload Blood Cells Mol. Diseases 27 2001 285 289
    • (2001) Blood Cells Mol. Diseases , vol.27 , pp. 285-289
    • Lee, P.L.1    Halloran, C.2    West, C.3    Beutler, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.