Factor VIII and vWF deficiency in STT3A-CDG

STT3A-CDG (OMIM# 615596) is an autosomal recessive N-linked glycosylation disorder characterized by seizures, developmental delay, intellectual disability, and a type I carbohydrate deficient transferrin pattern. All previously reported cases (n = 6) have been attributed to a homozygous pathogenic m...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Chang, Irene J., Byers, Heather M., Ng, Bobby G., Merritt, John Lawrence, Gilmore, Reid, Shrimal, Shiteshu, Wei, Wei, Zhang, Yuan, Blair, Amanda B., Freeze, Hudson H., Zhang, Bin, Lam, Christina
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6658093/
https://ncbi.nlm.nih.gov/pubmed/30701557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12021
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