Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

Abstract Morquio B disease (MBD) is an ultra-rare lysosomal storage disease, which represents the relatively mild form of GLB1-associated disorders. In this article, we present the unique case of “pure” MBD associated with an insertion of the mobile genetic element from the class of retrotransposons...

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Bibliographic Details
Main Authors: Igor Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir Kenis, Alena Dimitrieva, Alexandra Filatova, Vyacheslav Tabakov, Mikhail Skoblov, Ekaterina Zakharova
Format: Article
Language:English
Published: Nature Portfolio 2022-07-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00315-y

Internet

https://doi.org/10.1038/s41525-022-00315-y

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