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- Title
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
- Authors
Song, Danyu; Fu, Xiaona; Ge, Lin; Chang, Xingzhi; Wei, Cuijie; Liu, Jieyu; Yang, Haipo; Qu, Suqing; Bao, Xinhua; Toda, Tatsushi; Wu, Xiru; Xiong, Hui
- Abstract
The predicted synonymous mutation c.1251G>A of ISPD (NM 001101426.3) is a hot spot causing exon 9 skipping in five patients. Direct sequencing of the amplified cDNA confirmed exon 9 skipping in P5 [Colour figure can be viewed at wileyonlinelibrary.com] gl I ISPD i contains 10 exons according to NM 001101426.3.
- Subjects
MUSCULAR dystrophy; CHINESE people; RNA splicing; GENETIC mutation
- Publication
Clinical Genetics, 2020, Vol 97, Issue 5, p789
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13695