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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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| Izdano u: | J Inherit Metab Dis |
|---|---|
| Glavni autori: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2019
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| Teme: | |
| Online pristup: | 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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