Clinical and Genetic Spectra of 60 Chinese Patients with Sitosterolemia and the Effecacy of Targeted Treatments
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https://figshare.com/articles/dataset/Clinical_and_Genetic_Spectrum_of_60_Chinese_Patients_with_Sitosterolemia/15026295/2
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<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>
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figshare
创建时间：
2021-07-22
