title: A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.
authors: Department of Pediatrics, Medical University, Innsbruck, Austria. peter.heinz-erian@uki.at
authors: Peter
authors: P
authors: Heinz-Erian
authors: Michaela
authors: M
authors: Oberauer
authors: Nikolaus
authors: N
authors: Neu
authors: Thomas
authors: T
authors: Müller
authors: Sabine
authors: S
authors: Scholl-Bürgi
authors: Josef
authors: J
authors: Hager
authors: Klaus
authors: K
authors: Pittschieler
authors: Andreas R
authors: AR
authors: Janecke
mesh_terms: D000293:Adolescent; D017920:Antiporters / Q000235:genetics*; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides / Q000378:metabolism*; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003967:Diarrhea / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D006801:Humans; D000076988:Sulfate Transporters
chemical_list: D017920:Antiporters; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; D018389:Codon, Nonsense; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters; D004247:DNA