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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Detaylı Bibliyografya
Asıl Yazarlar: Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2009
Konular:
Research Article
Online Erişim: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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