Browsing by Subject "Gene Dosage"
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Achilles, a new family of transcriptionally active retrotransposons from the olive fruit fly, with y chromosome preferential distribution
(2015)Sex chromosomes have many unusual features relative to autosomes. The in depth exploration of their structure will improve our understanding of their origin and divergence (degeneration) as well as the evolution of genetic ... -
Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage
(2022)Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. Methods: Consecutive patients (n = 42) who ...