Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

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....

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Bibliographic Details
Main Authors: Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Format: Artigo
Language:Inglês
Published: BioMed Central 2009
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2635369/
https://ncbi.nlm.nih.gov/pubmed/19161632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-230X-9-8
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