Complex Transposon Insertion as a Novel Cause of Pompe Disease

Complex Transposon Insertion as a Novel Cause of Pompe Disease

Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the <i>GAA</i> gene. According to public mutation databases, more than 679 pathogenic variants have been described in <i>GAA</i>, none of which are associated with mobile g...

Full description

Bibliographic Details
Main Authors: Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:International Journal of Molecular Sciences
Subjects:
SVA
L1
transposable elements
transcription termination
missplicing
retrotransposon
Online Access:https://www.mdpi.com/1422-0067/22/19/10887

Internet

https://www.mdpi.com/1422-0067/22/19/10887

Similar Items