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Mefv Gene Mutations In Familial Mediterranean Fever Phenotype Ii Patients With Renal Amyloidosis In Childhood: A Retrospective Clinicopathological And Molecular Study
(Oxford Univ Press, 2002)
Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. ...
Lipoxygenase-3 (Aloxe3) and 12(R)-Lipoxygenase (Alox12B) Are Mutated in Non-Bullous Congenital Ichthyosiform Erythroderma (Ncie) Linked to Chromosome 17P13.1
(Oxford Univ Press, 2002)
We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis ...