article_metadata: Jingwen Jiang Guang Chen Jingying Wu Xinghua Luan Haiyan Zhou Xiaoli Liu Zeyu Zhu Xiaoxuan Song Shige Wang Xiaohang Qian Juanjuan Du Xiaojun Huang Mei Zhang Wei Xu Li Cao
article_metadata: 10.3389/fgene.2020.00682
article_metadata: Front Genet
article_metadata: 2020 Jul 1;11:682.
article_metadata: cyp27a1 cerebrotendinous xanthomatosis chinese clinical features compound mutations hotspot
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/32714376/
article_metadata: PMC7342084
article_metadata: 32714376
article_metadata: c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis
article_metadata: 2020