A splice site mutation c.1251G>A of ISPD...

Clinical Genetics 2020 / 01

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

Song, Danyu, Fu, Xiaona, Ge, Lin, Chang, Xingzhi, Wei, Cuijie, Liu, Jieyu, Yang, Haipo, Qu, Suqing, Bao, Xinhua, Toda, Tatsushi, Wu, Xiru, Xiong, Hui
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Journal:
Clinical Genetics
DOI:
10.1111/cge.13695
Date:
January, 2020
File:
PDF, 1.22 MB
2020
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