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Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations
Objective: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. Methods: Mutations were detected by different methods including SSCP analyses as a screening technique on the basis of genomic or cDNA, f...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736134/ https://ncbi.nlm.nih.gov/pubmed/16141001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033324 |
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