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Volumn 16, Issue 2, 2007, Pages 112-115

Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 FAST real time PCR platform

Author keywords

ABI 7500; Hereditary hemochromotosis; HFE; TAQman

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; DNA FINGERPRINTING; GENETIC PREDISPOSITION; GENETICS; METHODOLOGY; NUCLEOTIDE SEQUENCE; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 34347403063     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/PDM.0b013e3180310489     Document Type: Article
Times cited : (9)

References (6)
  • 1
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    • Swinkels, D.W.1    Janssen, M.C.H.2    Bergmans, J.3
  • 2
    • 0035425811 scopus 로고    scopus 로고
    • HFE gene and hereditary hemochromatosis: A HuGE review
    • Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Am J Epidemiol. 2001;154:193-206.
    • (2001) Am J Epidemiol , vol.154 , pp. 193-206
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 3
    • 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, 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
  • 4
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 1996;22:187-194.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 5
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002;359:211-218.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3
  • 6
    • 33748775735 scopus 로고    scopus 로고
    • Mixture models of serum iron measures in population screening for hemochromatosis and iron overload
    • McLaren CE, Li K, McLaren GD, et al. Mixture models of serum iron measures in population screening for hemochromatosis and iron overload. Translat Res. 2006;148:196-206.
    • (2006) Translat Res , vol.148 , pp. 196-206
    • McLaren, C.E.1    Li, K.2    McLaren, G.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.