title: Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.
authors.affiliation: Instituto Hispalense de Pediatria, Seville, Spain.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Rodríguez-Herrera
authors.forename: Víctor Manuel
authors.initials: VM
authors.lastname: Navas-López
authors.forename: José
authors.initials: J
authors.lastname: Redondo-Nevado
authors.forename: Gabriel
authors.initials: G
authors.lastname: Gutiérrez
mesh_terms: D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003967:Diarrhea / Q000151:congenital / Q000188:drug therapy / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005796:Genes; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics; D020125:Mutation, Missense; D010290:Parents; D011189:Potassium Chloride / Q000627:therapeutic use; D017422:Sequence Analysis, DNA; D035781:Siblings; D012965:Sodium Chloride / Q000627:therapeutic use; D013030:Spain
chemical_list: D012965:Sodium Chloride; D011189:Potassium Chloride