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 GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we r...

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Detalles Bibliográficos
Autores principales: Bychkov, Igor, Baydakova, Galina, Filatova, Alexandra, Migiaev, Ochir, Marakhonov, Andrey, Pechatnikova, Nataliya, Pomerantseva, Ekaterina, Konovalov, Fedor, Ampleeva, Maria, Kaimonov, Vladimir, Skoblov, Mikhail, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509548/
https://www.ncbi.nlm.nih.gov/pubmed/34639227
http://dx.doi.org/10.3390/ijms221910887

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