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
38124012 (PubMed )
Supplement: gutjnl-2023-331370supp001.pdf
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
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