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Volumn 147, Issue 14, 2003, Pages 652-656

From gene to disease; HFE mutations in primary haemochromatosis;Van gen naar ziekte; HFE-mutaties bij primaire hemochromatose

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CYSTEINE; HFE PROTEIN; IRON; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TYROSINE;

EID: 0037420524     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (13)
  • 1
    • 0033519859 scopus 로고    scopus 로고
    • Diagnostiek en behandeling van primaire hemochromatose
    • Swinkels DW, Marx JJM. Diagnostiek en behandeling van primaire hemochromatose. Ned Tijdschr Geneeskd 1999;143:1404-8.
    • (1999) Ned Tijdschr Geneeskd , vol.143 , pp. 1404-1408
    • Swinkels, D.W.1    Marx, J.J.M.2
  • 2
    • 0033848697 scopus 로고    scopus 로고
    • EASL International consensus conference on haemochromatosis
    • Adams P, Brissot P, Powell LW. EASL International consensus conference on haemochromatosis. J Hepatol 2000;33:485-504.
    • (2000) J Hepatol , vol.33 , pp. 485-504
    • Adams, P.1    Brissot, P.2    Powell, L.W.3
  • 4
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 5
    • 0034949432 scopus 로고    scopus 로고
    • Hereditary hemochromatosis since discovery of the HFE gene
    • Lyon E, Frank EL. Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem 2001;47:1147-56.
    • (2001) Clin Chem , vol.47 , pp. 1147-1156
    • Lyon, E.1    Frank, E.L.2
  • 8
    • 0037006654 scopus 로고    scopus 로고
    • Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload
    • Townsend A, Drakesmith H. Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet 2002;359:786-90.
    • (2002) Lancet , vol.359 , pp. 786-790
    • Townsend, A.1    Drakesmith, H.2
  • 9
    • 0033599057 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • Andrews NC. Disorders of iron metabolism. N Engl J Med 1999;341:1986-95.
    • (1999) N Engl J Med , vol.341 , pp. 1986-1995
    • Andrews, N.C.1
  • 10
    • 0030340194 scopus 로고    scopus 로고
    • Population screening for haemochromatosis: A unifying analysis of published intervention trials
    • Bradley LA, Haddow JE, Palomaki GE, Population screening for haemochromatosis: a unifying analysis of published intervention trials. J Med Screen 1996;3:178-84.
    • (1996) J Med Screen , vol.3 , pp. 178-184
    • Bradley, L.A.1    Haddow, J.E.2    Palomaki, G.E.3
  • 12
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.