Associated Papers
Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.
Wanes D et al.
Gut, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Wanes D et al.
Nutrients, 2019
Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals.
Pontremoli C et al.
Genome Biology and Evolution, 2015
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.
Fazeli W et al.
Bmc Gastroenterology, 2015
Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.
Uchida N et al.
The Tohoku Journal of Experimental Medicine, 2012
Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.
Behrendt M et al.
Gastroenterology, 2009
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).
Torniainen S et al.
Bmc Gastroenterology, 2009
[Congenital lactase deficiency--a more common disease than previously thought?].
Torniainen S et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2009
Molecular genetics of human lactase deficiencies.
Järvelä I et al.
Annals of Medicine, 2009
Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.
Robayo-Torres CC et al.
Nutrition Reviews, 2007
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
Kuokkanen M et al.
American Journal of Human Genetics, 2006
Select a paper to view details