A novel TSC1 frameshift mutation c.1550_1551del causes...

  • Main
  • 2020 / 07
  • A novel TSC1 frameshift mutation c.1550_1551del causes...
Molecular Genetics & Genomic Medicine 2020 / 07

A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense‐mediated mRNA degradation (NMD) simultaneously in a Chinese family

Qiu, Cong, Li, Chengyan, Tong, Xiaoyun, Dai, Luoyang, Liu, Wenda, Xie, Yulie, Zhang, Qimei, Yang, Guohua, Li, Tao
How much do you like this book?
What’s the quality of the file?
Download the book for quality assessment
What’s the quality of the downloaded files?
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.1410
Date:
July, 2020
File:
PDF, 1.98 MB
2020
Conversion to is in progress
Conversion to is failed