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Volumn 7, Issue 8, 1998, Pages 1317-1325

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME MUTATION; CLINICAL ARTICLE; ETHNIC GROUP; EXON; FAMILIAL MEDITERRANEAN FEVER; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HUMAN; PRIORITY JOURNAL;

EID: 7344255810     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1317     Document Type: Article
Times cited : (231)

References (25)
  • 1
    • 0014118417 scopus 로고
    • Familial Mediterranean fever: A survey of 470 cases and review of the literature
    • Sohar, E., Gafni, J., Pras, M. and Heller, H. (1967) Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am. J. Med., 43, 227-253.
    • (1967) Am. J. Med. , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3    Heller, H.4
  • 5
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nature Genet., 17, 25-31.
    • (1997) Nature Genet. , vol.17 , pp. 25-31
  • 6
    • 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 (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell, 90, 797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 7
    • 0023158426 scopus 로고
    • Ret transforming gene encodes a fusion protein homologous to tyrosine kinases
    • Takahashi, M. and Cooper, G. (1987) Ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol. Cell. Biol., 7, 1378-1385.
    • (1987) Mol. Cell. Biol. , vol.7 , pp. 1378-1385
    • Takahashi, M.1    Cooper, G.2
  • 8
    • 0027397091 scopus 로고
    • A putative zinc-binding protein on lampbrush chromosomes loops
    • Bellini, M., Lacroix, J. and Gall, J. (1993) A putative zinc-binding protein on lampbrush chromosomes loops. EMBO J., 12, 107-114.
    • (1993) EMBO J. , vol.12 , pp. 107-114
    • Bellini, M.1    Lacroix, J.2    Gall, J.3
  • 10
    • 0029015347 scopus 로고
    • Molecular cloning of a new interferon-induced factor that represses human immunodeficiency virus type 1 long terminal repeat expression
    • Tissot, C. and Mechti, N. (1995) Molecular cloning of a new interferon-induced factor that represses human immunodeficiency virus type 1 long terminal repeat expression. J. Biol. Chem., 270, 14891-14898.
    • (1995) J. Biol. Chem. , vol.270 , pp. 14891-14898
    • Tissot, C.1    Mechti, N.2
  • 11
    • 0025280026 scopus 로고
    • Program description: Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome
    • Dausset, J., Cann, H., Cohen, D., Lathrop, M., Lalouel, J.M. and White, R. (1990) Program description: Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics, 6, 575-578.
    • (1990) Genomics , vol.6 , pp. 575-578
    • Dausset, J.1    Cann, H.2    Cohen, D.3    Lathrop, M.4    Lalouel, J.M.5    White, R.6
  • 13
    • 19244362693 scopus 로고    scopus 로고
    • Localization of the familial Mediterranean fever (FMF) gene to a 250 kb interval in non-Ashkenazi Jewish founder haplotypes
    • The French FMF Consortium (1996) Localization of the familial Mediterranean fever (FMF) gene to a 250 kb interval in non-Ashkenazi Jewish founder haplotypes. Am. J. Hum. Genet., 59, 603-612.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 603-612
  • 14
    • 7344254172 scopus 로고
    • Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products
    • Kwok, P.Y., Carlson, C., Yager, T.D., Ankenar, W. and Nickerson, D.A. (1994) Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics, 25, 615-622.
    • (1994) Genomics , vol.25 , pp. 615-622
    • Kwok, P.Y.1    Carlson, C.2    Yager, T.D.3    Ankenar, W.4    Nickerson, D.A.5
  • 15
    • 0023476284 scopus 로고
    • Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
    • Lerman, L.S. and Silverstein, K. (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol., 155, 482-501.
    • (1987) Methods Enzymol. , vol.155 , pp. 482-501
    • Lerman, L.S.1    Silverstein, K.2
  • 20
    • 7344233208 scopus 로고    scopus 로고
    • Significance of marenostrin/pyrin mutations in familial Mediterranean fever
    • Turin, 28-30 March 1998
    • Booth, D.R., Gillmore J.D., Booth, S.E., Pepys, M.B. and Hawkins, P.N. (1998) Significance of marenostrin/pyrin mutations in familial Mediterranean fever. Abstracts of the HGM'98, No. 27, Turin, 28-30 March 1998, p. 7.
    • (1998) Abstracts of the HGM'98 , vol.27 , pp. 7
    • Booth, D.R.1    Gillmore, J.D.2    Booth, S.E.3    Pepys, M.B.4    Hawkins, P.N.5
  • 21
    • 0024446455 scopus 로고
    • Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency
    • Rogers, D., Shohat, M., Petersen, G., Bickal, J., Congleton, J., Schwabe, A. and Rotter, J. (1995) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am. J. Med. Genet., 34, 168-172.
    • (1995) Am. J. Med. Genet. , vol.34 , pp. 168-172
    • Rogers, D.1    Shohat, M.2    Petersen, G.3    Bickal, J.4    Congleton, J.5    Schwabe, A.6    Rotter, J.7
  • 22
    • 0014216039 scopus 로고
    • Structure and properties of hemoglobin C Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain
    • Bookchin, R.M., Nagel, R.L. and Ranney, H.M. (1967) Structure and properties of hemoglobin C Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain. J. Biol. Chem., 242, 248-255.
    • (1967) J. Biol. Chem. , vol.242 , pp. 248-255
    • Bookchin, R.M.1    Nagel, R.L.2    Ranney, H.M.3
  • 24
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich, D., Kazazian, H.H., Antonarakis, S.E. and Gitschier, J. (1993) Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet., 5, 236-241.
    • (1993) Nature Genet. , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 25
    • 0030875991 scopus 로고    scopus 로고
    • Genetic linkage study of familial Mediterranean fever (FMF) to 16p 13.3 and evidence for genetic heterogeneity in the Turkish population
    • Akarsu, A.N., Saatci, U., Ozen, S., Bakkaloglu, A., Besbas, N. and Sarfarazi, M. (1997) Genetic linkage study of familial Mediterranean fever (FMF) to 16p 13.3 and evidence for genetic heterogeneity in the Turkish population. J. Med. Genet., 34, 573-578.
    • (1997) J. Med. Genet. , vol.34 , pp. 573-578
    • Akarsu, A.N.1    Saatci, U.2    Ozen, S.3    Bakkaloglu, A.4    Besbas, N.5    Sarfarazi, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.