Clinical and Genetic Spectra of 60 Chinese Patients with Sitosterolemia and the Efficacy of Targeted Treatments

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