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
10.3389/fgene.2020.00682
Front Genet
2020 Jul 1;11:682.
cyp27a1 cerebrotendinous xanthomatosis chinese clinical features compound mutations hotspot
CC BY
https://pubmed.ncbi.nlm.nih.gov/32714376/
PMC7342084
32714376
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis
2020