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Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)
Glycosylation-enabling genes are thought to comprise approximately 1–2 % of the human genome, thus, it is not surprising that more than 100 genetic disorders have been identified in this complex multi-pathway cellular process. Recent advances in next generation sequencing technology (NGS) have led t...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4373530/ https://ncbi.nlm.nih.gov/pubmed/25164783 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9752-1 |
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