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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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Detalhes bibliográficos
Main Authors: Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2009
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Acesso em linha: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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