Comparison of In Vitro and In Silico Assessments of Human Galactose-1-Phosphate Uridylyltransferase Coding Variants

Introduction Human pathogenic coding variations of the galactose-1-phosphate uridylyltransferase (GALT) gene cause classic galactosemia, a recessive disease of galactose metabolism. Unfortunately, there are many variants of uncertain significance (VUS) that need to be characterized in order to be ab...

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Detalles Bibliográficos
Autores principales: Mitchell, Jimmy T, Johnson, Eric B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9910814/
https://www.ncbi.nlm.nih.gov/pubmed/36788839
http://dx.doi.org/10.7759/cureus.33592

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9910814/
https://www.ncbi.nlm.nih.gov/pubmed/36788839
http://dx.doi.org/10.7759/cureus.33592

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