Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease

Recently, altered PLP1 splicing was confirmed as a genetic cause of hypomyelination of early myelinating structures (HEMS). A novel deep intronic deletion in intron 3 of PLP1 (NM_000533.5: c.453+59_+259del) was identified, and an in vitro minigene assay detected abnormal splicing patterns. However,...

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Detalles Bibliográficos
Autores principales: Yamamoto-Shimojima, Keiko, Akagawa, Hiroyuki, Yanagi, Kumiko, Kaname, Tadashi, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016919/
https://www.ncbi.nlm.nih.gov/pubmed/33795668
http://dx.doi.org/10.1038/s41439-021-00144-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016919/
https://www.ncbi.nlm.nih.gov/pubmed/33795668
http://dx.doi.org/10.1038/s41439-021-00144-y

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