메뉴 건너뛰기




Volumn 49, Issue 10, 2011, Pages 1633-1636

Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000 ® instrument

Author keywords

hemochromatosis; HFE; high resolution melting

Indexed keywords

GENOMIC DNA; HFE PROTEIN;

EID: 80054903877     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2011.654     Document Type: Article
Times cited : (17)

References (15)
  • 1
    • 0035116099 scopus 로고    scopus 로고
    • Hemochromatosis: Diagnosis and management
    • Bacon BR. Hemochromatosis: Diagnosis and management. Gastroenterology 2001;120:718-25. (Pubitemid 32171642)
    • (2001) Gastroenterology , vol.120 , Issue.3 , pp. 718-725
    • Bacon, B.R.1
  • 2
    • 67249111755 scopus 로고    scopus 로고
    • HFE-associated hereditary hemochromatosis
    • Alexander J, Kowdley KV. HFE-associated hereditary hemochromatosis. Genet Med 2009;11:307-13.
    • (2009) Genet Med , vol.11 , pp. 307-313
    • Alexander, J.1    Kowdley, K.V.2
  • 3
    • 78649447212 scopus 로고    scopus 로고
    • HFE gene mutations in patients with primary iron overload: Is there a significant improvement in molecular diagnosis yield with HFE sequencing?
    • Santos PC, Pereira AC, Cancado RD, Schettert IT, Sobreira TJ, Oliveira PS, et al. HFE gene mutations in patients with primary iron overload: Is there a significant improvement in molecular diagnosis yield with HFE sequencing? Blood Cells Mol Dis 2010;45:302-7.
    • (2010) Blood Cells Mol Dis , vol.45 , pp. 302-307
    • Santos, P.C.1    Pereira, A.C.2    Cancado, R.D.3    Schettert, I.T.4    Sobreira, T.J.5    Oliveira, P.S.6
  • 5
    • 77955508573 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment
    • Pietrangelo A. Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology 2010;139:393-408.
    • (2010) Gastroenterology , vol.139 , pp. 393-408
    • Pietrangelo, A.1
  • 6
    • 0034783455 scopus 로고    scopus 로고
    • An unusual melting curve profile in LightCycler multiplex genotyping of the hemochromatosis H63D/C282Y gene mutations
    • DOI 10.1016/S0009-9120(01)00252-1, PII S0009912001002521
    • Tag CG, Gressner AM, Weiskirchen R. An unusual melting curve profile in LightCycler multiplex genotyping of the hemochromatosis H63D/C282Y gene mutations. Clin Biochem 2001; 34:511-5. (Pubitemid 33001323)
    • (2001) Clinical Biochemistry , vol.34 , Issue.6 , pp. 511-515
    • Tag, C.G.1    Gressner, A.M.2    Weiskirchen, R.3
  • 7
    • 79551499986 scopus 로고    scopus 로고
    • Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes
    • de Juan Jimenez I, Cardenosa EE, Suela SP, Gonzalez EB, Trejo DS, Lluch OF, et al. Advantage of high-resolution melting curve analysis over conformation-sensitive gel electrophoresis for mutational screening of BRCA1 and BRCA2 genes. Clin Chim Acta 2011;412:578-82.
    • (2011) Clin Chim Acta , vol.412 , pp. 578-582
    • De Juan Jimenez, I.1    Cardenosa, E.E.2    Suela, S.P.3    Gonzalez, E.B.4    Trejo, D.S.5    Lluch, O.F.6
  • 8
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 9
    • 78049479470 scopus 로고    scopus 로고
    • APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population
    • Alvim RO, Freitas SR, Ferreira NE, Santos PC, Cunha RS, Mill JG, et al. APOE polymorphism is associated with lipid profile, but not with arterial stiffness in the general population. Lipids Health Dis 2010;9:128.
    • (2010) Lipids Health Dis , vol.9 , pp. 128
    • Alvim, R.O.1    Freitas, S.R.2    Ferreira, N.E.3    Santos, P.C.4    Cunha, R.S.5    Mill, J.G.6
  • 10
    • 78651498123 scopus 로고    scopus 로고
    • CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population
    • Santos PC, Soares RA, Santos DG, Nascimento RM, Coelho GL, Nicolau JC, et al. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. BMC Med Genet 2011;12:13.
    • (2011) BMC Med Genet , vol.12 , pp. 13
    • Santos, P.C.1    Soares, R.A.2    Santos, D.G.3    Nascimento, R.M.4    Coelho, G.L.5    Nicolau, J.C.6
  • 11
    • 78650907102 scopus 로고    scopus 로고
    • High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
    • Lin JT, Hsiao KJ, Chen CY, Wu CC, Lin SJ, Chou YY, et al. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin Chim Acta 2010; 412:460-5.
    • (2010) Clin Chim Acta , vol.412 , pp. 460-465
    • Lin, J.T.1    Hsiao, K.J.2    Chen, C.Y.3    Wu, C.C.4    Lin, S.J.5    Chou, Y.Y.6
  • 12
    • 77958156650 scopus 로고    scopus 로고
    • High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene
    • Castiglioni E, Soriani N, Girelli D, Camaschella C, Spiga I, Della Porta MG, et al. High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene. Clin Chem Lab Med 2010;48:1415-8.
    • (2010) Clin Chem Lab Med , vol.48 , pp. 1415-1418
    • Castiglioni, E.1    Soriani, N.2    Girelli, D.3    Camaschella, C.4    Spiga, I.5    Della Porta, M.G.6
  • 14
    • 3042651880 scopus 로고    scopus 로고
    • Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons
    • DOI 10.1373/clinchem.2004.032136
    • Liew M, Pryor R, Palais R, Meadows C, Erali M, Lyon E, et al. Genotyping of single-nucleotide polymorphisms by highresolution melting of small amplicons. Clin Chem 2004;50: 1156-64. (Pubitemid 38824225)
    • (2004) Clinical Chemistry , vol.50 , Issue.7 , pp. 1156-1164
    • Liew, M.1    Pryor, R.2    Palais, R.3    Meadows, C.4    Erali, M.5    Lyon, E.6    Wittwer, C.7
  • 15
    • 77949430843 scopus 로고    scopus 로고
    • High-resolution DNA melting analysis in clinical research and diagnostics
    • Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010;10:219-40.
    • (2010) Expert Rev Mol Diagn , vol.10 , pp. 219-240
    • Montgomery, J.L.1    Sanford, L.N.2    Wittwer, C.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.