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The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree

Glucose-galactose malabsorption (GGM) is due to mutations in the gene coding for the intestinal sodium glucose cotransporter SGLT1 (SLC5A1). Here we identify the rare variant Gln457Arg (Q457R) in a large pedigree of patients in the Västerbotten County in Northern Sweden with the clinical phenotype o...

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Detalles Bibliográficos
Autores principales: Lostao, M Pilar, Loo, Donald D, Hernell, Olle, Meeuwisse, Gunnar, Martin, Martin G, Wright, Ernest M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410129/
https://www.ncbi.nlm.nih.gov/pubmed/34485913
http://dx.doi.org/10.1093/function/zqab040