A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity

Synonymous variants within coding regions may influence protein expression and function. We have previously reported increased protein expression levels ex vivo (~120% in comparison to wild-type) from a synonymous polymorphism variant, c.354G>A [p.P118P], of the ADAMTS13 gene, encoding a plasma p...

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Detalles Bibliográficos
Autores principales: Hunt, Ryan, Hettiarachchi, Gaya, Katneni, Upendra, Hernandez, Nancy, Holcomb, David, Kames, Jacob, Alnifaidy, Redab, Lin, Brian, Hamasaki-Katagiri, Nobuko, Wesley, Aaron, Kafri, Tal, Morris, Christina, Bouché, Laura, Panico, Maria, Schiller, Tal, Ibla, Juan, Bar, Haim, Ismail, Amra, Morris, Howard, Komar, Anton, Kimchi-Sarfaty, Chava
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888508/
https://www.ncbi.nlm.nih.gov/pubmed/31731663
http://dx.doi.org/10.3390/ijms20225734

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888508/
https://www.ncbi.nlm.nih.gov/pubmed/31731663
http://dx.doi.org/10.3390/ijms20225734

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