Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene
European Journal of Pediatrics, 08/01/2012
Vallaeys L et al. – These clinical diagnosis was confirmed by an abnormal chromatography of the stool and normal small bowel biopsies. Mutation analysis revealed a novel, homozygous deletion within exon 10 of the SLC5A1 gene, i.e. c.1107_1109 del AGT.