Characterization of new mutations in the 5′-flanking region of the familial Mediterranean fever gene

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease commonly found in the Mediterranean populations. Genetic diagnosis has developed since the discovery of the causative gene MEFV in 1997. As many patients could not be confirmed genetically by routine exon screening, we search...

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Veröffentlicht in:	Genes and immunity 2009-04, Vol.10 (3), p.273-279
Hauptverfasser:	Notarnicola, C, Boizet-Bonhoure, B, de Santa Barbara, P, Osta, M A, Cattan, D, Touitou, I
Format:	Artikel
Sprache:	eng
Schlagworte:	5' Untranslated Regions - genetics Apoptosis Asymptomatic Base Sequence Biomedical and Life Sciences Biomedicine Cancer Research Cell Line Cell Line, Tumor Cytokines Cytoskeletal Proteins - genetics Deoxyribonucleic acid Diagnosis DNA DNA Mutational Analysis Exons Familial Mediterranean fever Familial Mediterranean Fever - genetics Female Fever Gel electrophoresis Gene Expression Gene mapping Gene mutations Genes Genetic aspects Genetic Predisposition to Disease Genetic screening Genetics Health aspects Human Genetics Humans Identification and classification Immunology Inflammatory diseases Investigations Life Sciences Male Molecular Sequence Data Mutation Nucleotides original-article Pathophysiology Patients Population genetics Promoter Regions, Genetic Proteins Pyrin Pyrin protein Risk factors Transcription factors
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