Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2021-09-10 , DOI: 10.1002/jimd.12420
In the following article,1 the following mutation printed in Table 1 and Figure 1 was incorrect:
c.646G > A, p.Ala261Pro (Table 1) and c.646G > A, p.Ala216Pro (Figure 1).
The correct mutation in Table 1 (Patient 1 and 2) for CYP27A1 mutation allele 1 and in Figure 1 should have read:
c.646G > C, p. Ala216 Pro.
The authors apologise for the errors.
REFERENCE
[1] Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA and Verrips, A. (2018), Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018;41:641-646. https://doi.org/10.1007/s10545-017-0086-7
中文翻译:
更正
在下面的文章中,1打印在表 1 和图 1 中的以下突变是不正确的:
c.646G > A,p.Ala261Pro(表 1)和 c.646G > A,p.Ala216Pro(图 1)。
表 1(患者 1 和 2)中 CYP27A1 突变等位基因 1 和图 1 中的正确突变应为:
c.646G > C,第。Ala216 Pro。
作者为错误道歉。
参考
[1] Stelten BML、Bonnot O、Huidekoper HH、van Spronsen FJ、van Hasselt PM、Kluijtmans LAJ、Wevers RA 和 Verrips, A.(2018 年),自闭症谱系障碍:脑腱黄瘤病的早期和常见特征。J 继承元数据文件。2018 年;41:641-646。https://doi.org/10.1007/s10545-017-0086-7