Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
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DOI: 10.1007/s11011-017-0047-8
Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients.… read more here.
Keywords: chinese ctx; ctx patients; family; genetic features ... See more keywords