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Identification of Novel Mutations and Sequence Variation in the Zellweger Syndrome Spectrum of Peroxisome Biogenesis Disorders
Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, PEX12, or PEX26 ge...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2009
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2649967/ https://ncbi.nlm.nih.gov/pubmed/19105186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20932 |
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