Literature DB >> 31909476

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

Danyu Song1, Xiaona Fu1, Lin Ge1, Xingzhi Chang1, Cuijie Wei1, Jieyu Liu1, Haipo Yang1, Suqing Qu2, Xinhua Bao1, Tatsushi Toda3, Xiru Wu1, Hui Xiong1.   

Abstract

The predicted synonymous mutation c.1251G>A of ISPD (NM_001101426.3) is a hot spot causing exon 9 skipping in five patients.
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2020        PMID: 31909476     DOI: 10.1111/cge.13695

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report.

Authors:  Mi Yang; Ru-Xin Xing
Journal:  World J Clin Cases       Date:  2021-07-06       Impact factor: 1.337

  1 in total

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