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 Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.
Marten LM et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2022
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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
Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene.
Diekmann L 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
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