The M694V mutation in Armenian-Americans: a 10-year retrospective study ofMEFVmutation testing for familial Mediterranean fever at UCLA-Reference-Cited by-同舟云学术

The M694V mutation in Armenian-Americans: a 10-year retrospective study ofMEFVmutation testing for familial Mediterranean fever at UCLA

Published:2012-11-07 Issue:1 Volume:84 Page:55-59
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ong FS,Vakil H¹,Xue Y²,Kuo JZ,Shah KH,Lee RB,Bernstein KE,Rimoin DL,Getzug T,Das K¹,Deignan JL¹,Rotter JI,Grody WW

Affiliation:

1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine; University of California; Los Angeles; CA; USA

2. Medical Genetics Institute; Cedars-Sinai Medical Center; Los Angeles; CA; USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic;Zadeh;Genet Med,2011

2. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis;Shohat;Eur J Hum Genet,1999

3. The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity;Shohat;Am J Hum Genet,1992

4. Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246;Levy;Am J Hum Genet,1996

5. Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay;Grandemange;Hum Mol Genet,2009

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