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Exon 2 Skipping Eliminates Gamma-Glutamyl Carboxylase Activity, Indicating a Partial Splicing Defect in a Patient with Vitamin K Clotting Factor Deficiency
BACKGROUND: Mutations in the gamma-glutamyl carboxylase (GGCX), which is required for vitamin K-dependent (VKD) protein activation, can result in vitamin K clotting factor deficiency (VKCFD1). A recent report described a VKCFD1 patient with a homozygous carboxylase mutation that altered splicing and...
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| Izdano u: | J Thromb Haemost |
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| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7181818/ https://ncbi.nlm.nih.gov/pubmed/31009158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jth.14456 |
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