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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface protein...
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| Publicado no: | Genet Mol Biol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sociedade Brasileira de Genética
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5901507/ https://ncbi.nlm.nih.gov/pubmed/29473937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2017-0172 |
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