Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency

Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. Here we report th...

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Autors principals: Kuokkanen, Mikko, Kokkonen, Jorma, Enattah, Nabil Sabri, Ylisaukko-oja, Tero, Komu, Hanna, Varilo, Teppo, Peltonen, Leena, Savilahti, Erkki, Järvelä, Irma
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380240/
https://ncbi.nlm.nih.gov/pubmed/16400612
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