A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. Issue 5 (7th January 2020)

• Record Type: Journal Article
• 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
• Is Part Of: Clinical genetics. Volume 97:Issue 5(2020)
• Page Start: 789
• Page End: 790
• Publication Date: 2020-01-07
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13695
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : The predicted synonymous mutation c.1251G>A of ISPD (NM_001101426.3) is a hot spot causing exon 9 skipping in five patients.