A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

BACKGROUND: Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders that affect multiple organ systems. Approximately 80% of PBD patients are classifiedin the Zellweger syndrome spectrum, which is generally caused by mutations in the PEX1, PEX6, PEX10, PEX12,...

Descripción completa

Detalles Bibliográficos
Autores principales: Semenova, Natalia A., Kurkina, Marina V., Marakhonov, Andrey V., Dadali, Elena L., Taran, Natalia N., Strokova, Tatyana V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065337/
https://www.ncbi.nlm.nih.gov/pubmed/33912394
http://dx.doi.org/10.1016/j.ymgmr.2021.100754

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065337/
https://www.ncbi.nlm.nih.gov/pubmed/33912394
http://dx.doi.org/10.1016/j.ymgmr.2021.100754

Ejemplares similares