Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance

The effects of synonymous single nucleotide variants (sSNVs) are often neglected because they do not alter protein primary structure. Nevertheless, there is growing evidence that synonymous variations may affect messenger RNA (mRNA) expression and protein conformation and activity, which may lead to...

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Detalles Bibliográficos
Autores principales: Jankowska, Katarzyna I., Meyer, Douglas, Holcomb, David D., Kames, Jacob, Hamasaki-Katagiri, Nobuko, Katneni, Upendra K., Hunt, Ryan C., Ibla, Juan C., Kimchi-Sarfaty, Chava
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631689/
https://www.ncbi.nlm.nih.gov/pubmed/35667091
http://dx.doi.org/10.1182/bloodadvances.2022007065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631689/
https://www.ncbi.nlm.nih.gov/pubmed/35667091
http://dx.doi.org/10.1182/bloodadvances.2022007065

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