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The Glycosylphosphatidylinositol biosynthesis pathway in human diseases

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 alkaline...

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Detalles Bibliográficos
Autores principales:	Wu, Tenghui, Yin, Fei, Guang, Shiqi, He, Fang, Yang, Li, Peng, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254680/ https://www.ncbi.nlm.nih.gov/pubmed/32466763 http://dx.doi.org/10.1186/s13023-020-01401-z

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