Article
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).
BMC gastroenterology - 22 Jan 2009
Torniainen Suvi, Freddara Roberta, Routi Taina, Gijsbers Carolien, Catassi Carlo, Höglund Pia, Savilahti Erkki, Järvelä Irma
Abstract excerpt
BACKGROUND: Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. The purpose of this study was to...
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