Cargando…

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...

Descripción completa

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:
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