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The Glycosylphosphatidylinositol biosynthesis pathway in human diseases
Abstract Glycosylphosphatidylinositol biosynthesis defects cause rare genetic disorders characterised by developmental delay/intellectual disability, seizures, dysmorphic features, and diverse congenital anomalies associated with a wide range of additional features (hypotonia, hearing loss, elevated...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2020-05-01
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| Colecção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13023-020-01401-z |
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