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Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report
BACKGROUND: The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of functional peroxisomes which is seen in classical Zellweger syndrome. These pat...
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| 出版年: | J Med Case Rep |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5547663/ https://ncbi.nlm.nih.gov/pubmed/28784167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1365-5 |
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