메뉴 건너뛰기




Volumn 104, Issue 7, 2004, Pages 2176-2177

Identification of a novel mutation (C321X) in HJV

Author keywords

[No Author keywords available]

Indexed keywords

CAPTOPRIL; DIGITALIS; ESTROGEN; FUROSEMIDE; INSULIN; PROGESTERONE;

EID: 4644256637     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-01-0400     Document Type: Article
Times cited : (52)

References (9)
  • 1
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004;36:77-82.
    • (2004) Nat Genet , vol.36 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 3
    • 0033358675 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q
    • Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet. 1999;64:1388-1393.
    • (1999) Am J Hum Genet , vol.64 , pp. 1388-1393
    • Roetto, A.1    Totaro, A.2    Cazzola, M.3
  • 4
    • 0034749597 scopus 로고    scopus 로고
    • Linkage to chromosome 1q in Greek families with Juvenile hemochromatosis
    • Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with Juvenile hemochromatosis. Blood Cells Mol Dis. 2001;27:744-749.
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 744-749
    • Papanikolaou, G.1    Politou, M.2    Roetto, A.3
  • 5
    • 10744230412 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
    • Rivard SR, Lanzara C, Grimard D, et al. Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur J Hum Genet. 2003;11:585-589.
    • (2003) Eur J Hum Genet , vol.11 , pp. 585-589
    • Rivard, S.R.1    Lanzara, C.2    Grimard, D.3
  • 6
    • 1542283709 scopus 로고    scopus 로고
    • Screening hepcidin for mutations in juvenile hemochromatosis: Identification of a new mutation (C70R)
    • Roetto A, Daraio F, Porporato P, et al. Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). Blood. 2004;103:2407-2409.
    • (2004) Blood , vol.103 , pp. 2407-2409
    • Roetto, A.1    Daraio, F.2    Porporato, P.3
  • 7
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A, Papanikolaou G, Politou M, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2002;33:21-22
    • (2002) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3
  • 8
    • 2542489702 scopus 로고    scopus 로고
    • Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′ UTR of the hepcidin gene
    • Matthes T, Aguilar-Martinez P, Bosman-Pizzi L, et al. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′ UTR of the hepcidin gene [abstract]. Blood. 2003;102:2786.
    • (2003) Blood , vol.102 , pp. 2786
    • Matthes, T.1    Aguilar-Martinez, P.2    Bosman-Pizzi, L.3
  • 9
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • Merryweather-Clarke AT, Cadet E, Bomford A, et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum Mol Genet. 2003;12:2241-2247.
    • (2003) Hum Mol Genet , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.