메뉴 건너뛰기




Volumn 45, Issue 12, 1999, Pages 2275-2278

LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0032712283     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.12.2275     Document Type: Article
Times cited : (36)

References (15)
  • 2
    • 0030963287 scopus 로고    scopus 로고
    • Prevalence of hereditary hemochromatosis in a Massachusetts corporation: Is Celtic origin a risk factor?
    • 2. Smith BN, Kantrowitz W, Grace ND, Greenberg MS, Patton TJ, Ookubu R, et al. Prevalence of hereditary hemochromatosis in a Massachusetts corporation: is Celtic origin a risk factor? Hepatology 1997:25:1439-46.
    • (1997) Hepatology , vol.25 , pp. 1439-1446
    • Smith, B.N.1    Kantrowitz, W.2    Grace, N.D.3    Greenberg, M.S.4    Patton, T.J.5    Ookubu, R.6
  • 3
    • 0029921687 scopus 로고    scopus 로고
    • Haemochromatosis - A clinical update
    • 3. Burt MJ, George DK, Powell LW. Haemochromatosis - a clinical update. Med J Aust 1996;164:348-51.
    • (1996) Med J Aust , vol.164 , pp. 348-351
    • Burt, M.J.1    George, D.K.2    Powell, L.W.3
  • 4
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class 1-like gene is mutated in patients with hereditary heamochromatosis
    • 4. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class 1-like gene is mutated in patients with hereditary heamochromatosis. 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
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • 5. Lebron JA, Bennett MJ, Vaughn DE, Chirino AJ, Snow PM, Mintier GA, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998;93:111-23.
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3    Chirino, A.J.4    Snow, P.M.5    Mintier, G.A.6
  • 6
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • 6. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998;95: 1472-7.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3    Lee, V.K.4    Lebron, J.A.5    Watson, N.6
  • 8
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • 8. Mura C, Raguenes 0, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999;93:2502-5.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 9
    • 0032914223 scopus 로고    scopus 로고
    • Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations
    • 9. Stott MK, Fellowes AP, Upton JD, Burt MJ, George PM. Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations. Clin Chem 1999:45:426-8.
    • (1999) Clin Chem , vol.45 , pp. 426-428
    • Stott, M.K.1    Fellowes, A.P.2    Upton, J.D.3    Burt, M.J.4    George, P.M.5
  • 11
    • 0032126175 scopus 로고    scopus 로고
    • Detection of the hereditary hemochromatosis gene mutation by real time fluorescence polymerase chain reaction and peptide nucleic acid clamping
    • 11. Kyger EM, Krevolin MD, Powell MJ. Detection of the hereditary hemochromatosis gene mutation by real time fluorescence polymerase chain reaction and peptide nucleic acid clamping. Anal Biochem 1998:260:142-8.
    • (1998) Anal Biochem , vol.260 , pp. 142-148
    • Kyger, E.M.1    Krevolin, M.D.2    Powell, M.J.3
  • 12
    • 0032775931 scopus 로고    scopus 로고
    • Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
    • 12. Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999:22:325-6.
    • (1999) Nat Genet , vol.22 , pp. 325-326
    • Jeffrey, G.P.1    Chakrabarti, S.2    Hegele, R.A.3    Adams, P.C.4
  • 13
    • 0033516564 scopus 로고    scopus 로고
    • Mutations in the active site of penicillin-binding protein PBP2X from Streptococcus pneumoniae: Role in the specificity for β-lactam antibiotics
    • 13. Mouz N, Di Guilmi AM, Gordon E, Hakenbeck R, Dideberg 0. Vernet T. Mutations in the active site of penicillin-binding protein PBP2X from Streptococcus pneumoniae: role in the specificity for β-lactam antibiotics. J Biol Chem 1999;274:19175-80.
    • (1999) J Biol Chem , vol.274 , pp. 19175-19180
    • Mouz, N.1    Di Guilmi, A.M.2    Gordon, E.3    Hakenbeck, R.4    Dideberg, O.5    Vernet, T.6
  • 14
    • 0032772954 scopus 로고    scopus 로고
    • Rapid detection, by PCR and reverse hybridization, of mutations in the Helicobacter pylori 23S rRNA gene, associated with macrolide resistance
    • 14. Van Doorn LJ, Debets-Ossenkopp YJ, Marais A, Sanna R, Megraud F, Kusters JG, Quint WG. Rapid detection, by PCR and reverse hybridization, of mutations in the Helicobacter pylori 23S rRNA gene, associated with macrolide resistance. Antimicrob Agents Chemother 1999:43:1779-82.
    • (1999) Antimicrob Agents Chemother , vol.43 , pp. 1779-1782
    • Van Doorn, L.J.1    Debets-Ossenkopp, Y.J.2    Marais, A.3    Sanna, R.4    Megraud, F.5    Kusters, J.G.6    Quint, W.G.7
  • 15
    • 84984934752 scopus 로고    scopus 로고
    • Resequencing and mutational analysis using oligonucleotide microarrays
    • 15. Hacia JG. Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet 1999;21(Suppl 1):42-7.
    • (1999) Nat Genet , vol.21 , Issue.SUPPL. 1 , pp. 42-47
    • Hacia, J.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.