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
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
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
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
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