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Volumn 36, Issue 10, 2009, Pages 2372-

Is E148Q a benign polymorphism or a disease-causing mutation?

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLCHICINE; GLUTAMIC ACID; GLUTAMINE;

EID: 70450162174     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: 10.3899/jrheum.090250     Document Type: Letter
Times cited : (37)

References (10)
  • 1
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • The International FMF Consortium
    • The 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
  • 2
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French International FMF consortium
    • The French International FMF consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 3
    • 0034164577 scopus 로고    scopus 로고
    • The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?
    • Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2000;15:385-386
    • (2000) Hum Mutat , vol.15 , pp. 385-386
    • Ben-Chetrit, E.1    Lerer, I.2    Malamud, E.3    Domingo, C.4    Abeliovich, D.5
  • 4
    • 2142857251 scopus 로고    scopus 로고
    • The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
    • Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2003;22:339-340
    • (2003) Hum Mutat , vol.22 , pp. 339-340
    • Tchernitchko, D.1    Legendre, M.2    Cazeneuve, C.3    Delahaye, A.4    Niel, F.5    Amselem, S.6
  • 6
    • 0035882523 scopus 로고    scopus 로고
    • Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
    • DOI 10.1002/ajmg.1438
    • Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001;102:272-276 (Pubitemid 32730278)
    • (2001) American Journal of Medical Genetics , vol.102 , Issue.3 , pp. 272-276
    • Kogan, A.1    Shinar, Y.2    Lidar, M.3    Revivo, A.4    Langevitz, P.5    Padeh, S.6    Pras, M.7    Livneh, A.8
  • 9
    • 0007429995 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Klippel JH, Dieppe PA, editors. 2nd ed. London: Mosby
    • Pras M, Kastner DL. Familial Mediterranean fever. In: Klippel JH, Dieppe PA, editors. Rheumatology. 2nd ed. London: Mosby; 1997:23.1-23.4.
    • (1997) Rheumatology , vol.23
    • Pras, M.1    Kastner, D.L.2
  • 10
    • 33644931158 scopus 로고    scopus 로고
    • Cystic fibrosis mutations with widely variable phenotype: The D1152H example
    • Mussaffi H, Prais D, Mei-Zahav M, Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006;41:250-254
    • (2006) Pediatr Pulmonol , vol.41 , pp. 250-254
    • Mussaffi, H.1    Prais, D.2    Mei-Zahav, M.3    Blau, H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.