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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Autores principales: Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2009
Materias:
Research Article
Acceso en línea: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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