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Volumn 10, Issue 5, 2008, Pages 349-352

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations

Author keywords

Familial mediterranean fever; Frequency; MEFV

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; DNA;

EID: 44449128233     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181723cc8     Document Type: Article
Times cited : (14)

References (10)
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  • 2
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  • 3
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    • Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999;65:88-97.
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    • Cazeneuve, C.1    Sarkisian, T.2    Pecheux, C.3    Dervichian, M.4
  • 4
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  • 5
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    • Familial Mediterranean fever
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  • 6
    • 0034091243 scopus 로고    scopus 로고
    • Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups
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    • (2000) Eur J Hum Genet , vol.8 , pp. 307-310
    • Stoffman, N.1    Magal, N.2    Shohat, T.3    Lotan, R.4
  • 7
    • 0031814513 scopus 로고    scopus 로고
    • Familial Mediterranean fever at the millennium: Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
    • Samuels J, Aksentijevich I, Torosyan Y, Centola M, et al. Familial Mediterranean fever at the millennium: clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Balt) 1998;77:268-297.
    • (1998) Medicine (Balt) , vol.77 , pp. 268-297
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  • 8
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    • 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, et al. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2002;15:385-386.
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  • 9
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    • The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
    • Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, et al. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2000;24:339-340.
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  • 10
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    • Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    • Aksentijevich I, Torosyan Y, Samuels J, Centola M, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999;64:949-962.
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.