Associated Papers
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Wanes D et al.
Nutrients, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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
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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