Behçet's disease (BD) is a multisystem inflammatory disorder currently classified as a vasculitis. Its etiopathogenesis is unclear, but environmental, genetic and autoimmune factors have been ...
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Of note, finding a single MEFV pathogenic variant in patients of Mediterranean origin does not exclude the possibility of disease-causing mutations in other HRF genes.28 However, interpretation of a ...
Figure 1: Physical map of the critical MUL region. We isolated total RNA from lymphoblastoid cells of four MUL patients, one MUL carrier and one control individual using the RNeasy RNA extraction ...
Copyright: © 2025 Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies. Human genetic disease is ...
Disease genetics, of human, animal and plant diseases, investigates the consequences of pathogenic (host) genetic variants as the major causes of heritable disorders (monogenic diseases) as well ...
1 Department of Medicine, University of California San Diego School of Medicine, La Jolla, California, USA 2 Department of Chemistry and Biochemistry, University of California San Diego School of ...
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