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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Publicado en:J Thromb Haemost
Autores principales: Rishavy, Mark A, Hallgren, Kevin W, Zhang, Haitao, Runge, Kurt W, Berkner, Kathleen L
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea: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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