Verrips A, Steenbergen-Spanjers G C, Luyten J A, Wevers R A, Wokke J H, Gabreëls F J, Wolthers B G, van den Heuvel L P
Department of Neurology, University Hospital Nijmegen, The Netherlands.
Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506.
We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.
我们报告了在一个患有脑腱黄瘤病的荷兰家族中，固醇27-羟化酶（CYP 27）基因出现的一个新突变：第4内含子剪接供体位点的G→A转换。该突变导致外显子4缺失，使得CYP 27酶分子中66个氨基酸缺失。
