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Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

Metabolic brain disease - 1 Oct 2017

Chen Chen, Zhang Yue, Wu Hui, Sun Yi-Min, Cai Ye-Hua, Wu Jian-Jun, Wang Jian, Gong Ling-Yun, Ding Zheng-Tong

Abstract excerpt

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. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The...

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PMID: 28623566
DOI: 10.1007/s11011-017-0047-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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