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Rational diagnostic strategy for Zellweger syndrome spectrum patients
Zellweger syndrome spectrum (ZSS) comprises a clinically and genetically heterogeneous disease entity, which is caused by mutations in any of the 12 different human PEX genes leading to impaired biogenesis of the peroxisome. Patients potentially suffering from ZSS are diagnosed biochemically by meas...
Tallennettuna:
| Päätekijät: | , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2009
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2947092/ https://ncbi.nlm.nih.gov/pubmed/19142205 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.252 |
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