DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II
DELETION OF EXON-18 IS A FREQUENT MUTATION IN GLYCOGEN-STORAGE-DISEASE TYPE-II
复制标题
DOI：
10.1006/bbrc.1994.2360
复制
发表时间：
1994-09-30
影响因子：
3.1
通讯作者：
REUSER, AJJ
中科院分区：
文献类型：
--
作者：
VANDERKRAAN, M;KROOS, MA;REUSER, AJJ
An abnormal 2.3 kb SacI fragment of the human lysosomal alpha-glucosidase gene (GAA) was identified in patients with glycogen storage disease type II. The fragment results from deletion of exon 18 and adjacent parts of intron 17 and 18. The borders of the deletion are marked by the occurrence of an eight nucleotide long tandem repeat (AGGGGCCG) which is apparently instrumental in the mutation event. The exon 18 deletion was demonstrated in 10 out of 39 patients from Europe (all hetero-allelic) and is so far the most common mutation in this disease (allele frequency among patients is 0.13). (C) 1994 Academic Press, Inc.
