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Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene

BACKGROUND: Congenital lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea, meteorism and malnutrition, which start a few days after birth by the onset of nursing. The most common rationales identified for this disorder are missense mutations or...

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Detalles Bibliográficos
Autores principales: Diekmann, Lena, Pfeiffer, Katrin, Naim, Hassan Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432517/
https://www.ncbi.nlm.nih.gov/pubmed/25881162
http://dx.doi.org/10.1186/s12876-015-0261-y