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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,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| 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 |