Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method

Classic galactosemia is an autosomal recessive disorder caused by deleterious variants in the galactose‐1‐phosphate uridylyltransferase (GALT) gene. GALT enzyme deficiency leads to an increase in the levels of galactose and its metabolites in the blood causing neurodevelopmental and other clinical c...

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Detalles Bibliográficos
Autores principales: Canson, Daffodil M., Silao, Catherine Lynn T., Caoili, Salvador Eugenio C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606980/
https://www.ncbi.nlm.nih.gov/pubmed/31392114
http://dx.doi.org/10.1002/jmd2.12037

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606980/
https://www.ncbi.nlm.nih.gov/pubmed/31392114
http://dx.doi.org/10.1002/jmd2.12037

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