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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Main Authors: Yik, Wing Yan, Steinberg, Steven J., Moser, Ann B., Moser, Hugo W., Hacia, Joseph G.
Formato: Artigo
Idioma:Inglês
Publicado: 2009
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Article
Acceso en liña: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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