Clinical and Genetic Spectrum of 60 Chinese Patients with Sitosterolemia

<b>Supplemental</b><b> methods, figures and data file:</b>The procedure of plasma sterol analysis and minigene experiment. Clinical pictures of xanthomas (Fig. S1) and minigene-based assay results (Fig. S2).<b> </b>Detailed clinical information of P57, and result of minigene experiment.<b></b> <b>Supplemental</b><b> tables:</b> Demographics (Table S1), symptoms and signs (Table S2), laboratory results<i> </i>(Table S3) at the baseline and final follow-up in 60 patients with sitosterolemia, <i>ABCG5/ABCG8 </i>variants in all patients (Table S4), and the ClinVar P/LP variant allele frequency in gnomAD database (Table S5).<br>