Copyright
©The Author(s) 2022.
World J Clin Cases. Oct 16, 2022; 10(29): 10681-10688
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10681
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10681
Figure 5 Two pathological variants of CYP27A1 identified in the patient with cerebrotendinous xanthomatosis.
A: c.255+1G>T; B: c.1263+1G>T.
- Citation: Chang YY, Yu CQ, Zhu L. Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report . World J Clin Cases 2022; 10(29): 10681-10688
- URL: https://www.wjgnet.com/2307-8960/full/v10/i29/10681.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v10.i29.10681