메뉴 건너뛰기




Volumn 14, Issue 3, 1999, Pages 189-192

Detection by PCR of the C282Y mutation in the HFE gene of hemochromatosis: Practicability of the genotype assay on about 500 clinical samples;Detection par PCR de la mutation C282y du gene HFE de l'hemochromatose: Genotypage sur pres de 500 echantillons cliniques

Author keywords

C282Y mutation; Hemochromatosis; HFE gene; PCR

Indexed keywords

ARTICLE; BLOOD SAMPLING; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033133501     PISSN: 09232532     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-2532(99)80050-7     Document Type: Article
Times cited : (2)

References (16)
  • 1
    • 0031944939 scopus 로고    scopus 로고
    • Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis
    • Adams PC. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet 1998; 53 : 176-8
    • (1998) Clin Genet , vol.53 , pp. 176-178
    • Adams, P.C.1
  • 2
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations
    • Beutler E. Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations. Lancet 1997; 349 : 296-7
    • (1997) Lancet , vol.349 , pp. 296-297
    • Beutler, E.1
  • 3
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997; 61 : 762-4
    • (1997) Am J Hum Genet , vol.61 , pp. 762-764
    • Beutler, E.1
  • 5
    • 0031984370 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Etiologic, pathologic, and clinical aspects
    • Bothwell TH, McPhail AP. Hereditary hemochromatosis: Etiologic, pathologic, and clinical aspects. Sem Hematol 1998; 35 : 55-71
    • (1998) Sem Hematol , vol.35 , pp. 55-71
    • Bothwell, T.H.1    McPhail, A.P.2
  • 6
    • 0029827481 scopus 로고    scopus 로고
    • Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
    • Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. New Engl J Med 1996; 335 : 1799-1805
    • (1996) New Engl J Med , vol.335 , pp. 1799-1805
    • Bulaj, Z.J.1    Griffen, L.M.2    Jorde, L.B.3    Edwards, C.Q.4    Kushner, J.P.5
  • 7
    • 0031969395 scopus 로고    scopus 로고
    • Expression of HLA-linked hemochromatosis in subjects homozygous and heterozygous for the C282Y mutation
    • Crawford DHG, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous and heterozygous for the C282Y mutation. Gastroenterol 1998; 114 : 1003-8
    • (1998) Gastroenterol , vol.114 , pp. 1003-1008
    • Crawford, D.H.G.1    Jazwinska, E.C.2    Cullen, L.M.3    Powell, L.W.4
  • 8
    • 4243894109 scopus 로고    scopus 로고
    • Hémochromatose génétique et autres surcharges hépatiques constitutionnelles de l'adulte. La biologie des affections hépatiques
    • Deugnier Y, Moirand R, Brissot P. Hémochromatose génétique et autres surcharges hépatiques constitutionnelles de l'adulte. La biologie des affections hépatiques. Am Biol Clin 1996 : 135-48
    • (1996) Am Biol Clin , pp. 135-148
    • Deugnier, Y.1    Moirand, R.2    Brissot, P.3
  • 15
    • 0031213527 scopus 로고    scopus 로고
    • Coumpound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease?
    • Martinez PA, Biron C, Blanc F, Masmejean C, Jeanjean P, Michel H, Schved JF. Coumpound heterozygotes for hemochromatosis gene mutations: May they help to understand the pathophysiology of the disease? Blood Cells Mol Dis 1997; 23 : 269-76
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 269-276
    • Martinez, P.A.1    Biron, C.2    Blanc, F.3    Masmejean, C.4    Jeanjean, P.5    Michel, H.6    Schved, J.F.7
  • 16
    • 0031786823 scopus 로고    scopus 로고
    • Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families
    • Mercier G, Burckel A, Bathelier C, Boillat E, Lucotte G. Mutation analysis of the HLA-H gene in French hemochromatosis patients, and genetic counseling in families. Genet Counsel 1998; 9 : 181-6
    • (1998) Genet Counsel , vol.9 , pp. 181-186
    • Mercier, G.1    Burckel, A.2    Bathelier, C.3    Boillat, E.4    Lucotte, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.