메뉴 건너뛰기




Volumn 38, Issue 3, 2008, Pages 205-208

Is MEFV gene Arg202Gln (605 G〉A) a disease-causing mutation?

Author keywords

Amyloidosis; Familial Mediterranean fever (FMF); MEFV gene; R202Q

Indexed keywords

HAPLOTYPE; LINKAGE DISEQUILIBRIUM (LD); TURKISH;

EID: 45749099365     PISSN: 13000144     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (41)

References (14)
  • 1
    • 33645101247 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Arabs
    • El-Shanti H, Majeed HA, El-Khateeb M. Familial Mediterranean fever in Arabs. Lancet 2006; 367(9515): 1016-24.
    • (2006) Lancet , vol.367 , Issue.9515 , pp. 1016-1024
    • El-Shanti, H.1    Majeed, H.A.2    El-Khateeb, M.3
  • 2
    • 0022570984 scopus 로고
    • Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
    • Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986; 314(16): 1001-5.
    • (1986) N Engl J Med , vol.314 , Issue.16 , pp. 1001-1005
    • Zemer, D.1    Pras, M.2    Sohar, E.3    Modan, M.4    Cabili, S.5    Gafni, J.6
  • 3
    • 12344314454 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Turkey: Results of a nationwide study
    • Turkish FMF study group
    • Turkish FMF study group. Familial Mediterranean fever in Turkey: results of a nationwide study. Medicine 2005; 84: 1-11.
    • (2005) Medicine , vol.84 , pp. 1-11
  • 4
    • 0031693188 scopus 로고    scopus 로고
    • Centola M, Aksentijevich.I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998; 7: 1581-8.
    • Centola M, Aksentijevich.I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998; 7: 1581-8.
  • 5
    • 45749133377 scopus 로고    scopus 로고
    • http://fmf.igh.cnrs.fr/infevers/
  • 8
    • 0033630556 scopus 로고    scopus 로고
    • MEFV mutations in Turkish patients suffering from familial Mediterranean fever
    • Akar N, Misirlioglu M, Yalcinkaya F, Akar E, Cakar N, Tumer N et al. MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 2000; 15: 118-9.
    • (2000) Hum Mutat , vol.15 , pp. 118-119
    • Akar, N.1    Misirlioglu, M.2    Yalcinkaya, F.3    Akar, E.4    Cakar, N.5    Tumer, N.6
  • 9
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N et al. Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9(7): 553-5.
    • (2001) Eur J Hum Genet , vol.9 , Issue.7 , pp. 553-555
    • Yilmaz, E.1    Ozen, S.2    Balci, B.3    Duzova, A.4    Topaloglu, R.5    Besbas, N.6
  • 10
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French FMF Consortium
    • French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 11
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the Roret gene family are likely to cause familial Mediterranean fever
    • International FMF Consortium
    • International FMF Consortium. Ancient missense mutations in a new member of the Roret gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 12
    • 0038141040 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) and renal AA amyloidosis-phenotype genotype correlation, treatment and prognosis
    • Ben-Cherit E. Familial Mediterranean fever (FMF) and renal AA amyloidosis-phenotype genotype correlation, treatment and prognosis. J Nephrol 2003; 16(3): 431-4.
    • (2003) J Nephrol , vol.16 , Issue.3 , pp. 431-434
    • Ben-Cherit, E.1
  • 13
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of Familial Mediterranean Fever (FMF) mutations
    • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-83.
    • (2001) Eur J Hum Genet , vol.9 , pp. 473-483
    • Touitou, I.1
  • 14
    • 34248351562 scopus 로고    scopus 로고
    • MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever
    • Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007; 71(5): 458-67.
    • (2007) Clin Genet , vol.71 , Issue.5 , pp. 458-467
    • Giaglis, S.1    Papadopoulos, V.2    Kambas, K.3    Doumas, M.4    Tsironidou, V.5    Rafail, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.