Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia

Glycosylphosphatidylinositol (GPI) is a membrane anchor for cell surface proteins. Inherited GPI deficiencies are a new subclass of congenital disorders of glycosylation. Phosphatidylinositol glycan class S (PIGS) is a subunit of the GPI transamidase which plays important roles in many biological pr...

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Detalles Bibliográficos
Autores principales: Zhang, Lily, Mao, Xiao, Long, Hongyu, Xiao, Bo, Luo, Zhaohui, Xiao, Wenbiao, Jin, Xingbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308501/
https://www.ncbi.nlm.nih.gov/pubmed/32612635
http://dx.doi.org/10.3389/fgene.2020.00564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308501/
https://www.ncbi.nlm.nih.gov/pubmed/32612635
http://dx.doi.org/10.3389/fgene.2020.00564

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