A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.
Heinz-Erian
Peter
P
Department of Pediatrics, Medical University, Innsbruck, Austria. peter.heinz-erian@uki.at
Oberauer
Michaela
M
Neu
Nikolaus
N
Müller
Thomas
T
Scholl-Bürgi
Sabine
S
Hager
Josef
J
Pittschieler
Klaus
K
Janecke
Andreas R
AR
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
D017920:Antiporters; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; D018389:Codon, Nonsense; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters; D004247:DNA