Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

OBJECTIVE: The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. METHODS: The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in whi...

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Detalles Bibliográficos
Autores principales: Tayebi, Naeimeh, Leon‐Ricardo, Brian, McCall, Kevin, Mehinovic, Elvisa, Engelstad, Kristin, Huynh, Vincent, Turner, Tychele N., Weisenberg, Judy, Thio, Liu L., Hruz, Paul, Williams, Robin S. B., De Vivo, Darryl C., Petit, Vincent, Haller, Gabe, Gurnett, Christina A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187726/
https://www.ncbi.nlm.nih.gov/pubmed/37000947
http://dx.doi.org/10.1002/acn3.51767

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