ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
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DOI: 10.1080/09537104.2020.1779926
Abstract: Sitosterolemia (OMIM 210250) is a rare inherited autosomal recessive disorder of lipid metabolism, characterized by increased levels of plasma plant sterols (PS) such as stigmasterol, campesterol, and sitosterol [1,2]. Only around 100 patients with sitosterolemia… read more here.
Keywords: abcg5 abcg8; gene variations; tmd; abcg8 gene ... See more keywords