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References
Cattan D., Bouali B., Chassaing N., Martinez F., Dupont J. M., Dode C. et al. 2006 Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum. Br. J. Dermatol. 154, 1190–1193.
Cazeneuve C., Ajrapetyan H., Papin S., Roudot-Thoraval F., Genevieve D., Mndjoyan E. et al. 2000 Identification of MEFVindependent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. 67, 1136–1143.
Chassaing N., Martin L., Calvas P., Le Bert M. and Hovnanian A. 2005 Pseudoxanthoma elasticum:a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J. Med. Genet. 42, 881–892.
Hart M., Li L., Tokunaga T., Lindsey J. R., Hassell J. R., Snow A. D. et al. 2001 Overproduction of perlecan core protein in cultured cells and transgenic mice. J. Pathol. 194, 262–269.
Maccari F., Gheduzzi D. and Volpi N. 2003 Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum. Clin. Chem. 49, 380–388.
Mansour I., Delague V., Cazeneuve C., Dode C., Chouery E., Pecheux C. et al. 2001 FamilialMediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations. Eur. J. Hum. Genet. 9, 51–55.
Mimouni A., Magal N., Stoffman N., Shohat T., Minasian A., Krasnov M. et al. 2000 Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics 105, E70.
Pfendner E. G., Vanakker O., Terry S. F., Vourthis S., McAndrew P. E., McClain M. R. et al. 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J. Med. Genet. (in Press); Published Online First: 6 July 2007, doi:10.1136/jmg.2007.051094.
Pras M., Bronshpigel N., Zemer D. and Gafni J. 1982 Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med. J. 150, 22–26.
Pras E., Livneh A., Balow J. E., Pras E. Jr, Kastner D. L., Pras M. et al. 1998 Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am. J. Med. Genet. 75, 216–219.
Ringpfeil F., Nakano A., Uitto J. and Pulkkinen L. 2001 Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am. J. Hum. Genet. 68, 642–652.
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.
The French FMF Consortium 1997 A candidate gene for familial Mediterranean fever. Nat. Genet. 17, 25–31.
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.
Tufan A., Babaoglu M. O., Akdogan A., Yasar U., Calguner M., Kalyoncu U. et al. 2007 Association of drug transporter gene ABCB1 (MDR1) 3435 C to T polymorphism with colchicine response in familial Mediterranean fever. J. Rheumatol. 34, 1540–1544.
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Chassaing, N., Touitou, I., Cattan, D. et al. ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity. J Genet 86, 293–295 (2007). https://doi.org/10.1007/s12041-007-0040-9
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DOI: https://doi.org/10.1007/s12041-007-0040-9