title: A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.
authors.affiliation: Department of Gastroenterology, Children's Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu Province, China.
authors.forename: Hongmei
authors.initials: H
authors.lastname: Guo
authors.affiliation: Department of Gastroenterology, Children's Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu Province, China.
authors.forename: Bi-Xia
authors.initials: BX
authors.lastname: Zheng
authors.affiliation: Department of Gastroenterology, Children's Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu Province, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Jin
mesh_terms: D044466:Asian People; D027963:Chloride-Bicarbonate Antiporters / Q000235:genetics*; D004252:DNA Mutational Analysis; D003967:Diarrhea / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D020125:Mutation, Missense; D000076988:Sulfate Transporters / Q000235:genetics*
chemical_list: D027963:Chloride-Bicarbonate Antiporters; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters