【摘 要】
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Ciliopathies are a group of human diseases that involve dysfunction of the cilium with patients harboring genetic mutations in numerous "cilia genes" exhibiting a wide range ofphenotypes and clinical
【机 构】
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Transgenic Mouse Facility University of Alabama at Birmingham USA
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Ciliopathies are a group of human diseases that involve dysfunction of the cilium with patients harboring genetic mutations in numerous "cilia genes" exhibiting a wide range ofphenotypes and clinical symptoms, including congenital defects, cognitive impairment, hypertension, diabetes and obesity.For example, Bardet-Biedl syndrome (BBS) and Alstr(o)m syndrome (ALMS) disorders are caused by mutations in proteins that localize to the cilium or the basal body at the base of the cilium.
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