TY - JOUR AU - Barbosa Gouveia, Sofía AU - Fernández-Crespo, S. AU - Lazare Iglesias, Hector AU - González Quintela, Arturo AU - Vázquez Agra, Nestor AU - Hermida Ameijeiras, Alvaro PY - 2023 SN - 2077-0383 UR - http://hdl.handle.net/20.500.11940/21117 AB - Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the ABCA1 gene, characterized by significantly reduced levels of plasma high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-I). TD typically leads... LA - eng TI - Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease DO - 10.3390/jcm12072596 T2 - Journal of Clinical Medicine KW - AS Santiago KW - IDIS KW - AS Santiago KW - CHUS KW - AS Santiago KW - CHUS KW - AS Santiago KW - CHUS KW - AS Santiago KW - CHUS VL - 12 ER -