A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.

Authors :: Heinz-Erian P
Oberauer M
Neu N
Müller T
Scholl-Bürgi S
Hager J
Pittschieler K
Janecke AR
Source :: Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2008 Sep; Vol. 47 (3), pp. 363-6.
Publication Year :: 2008

Subjects :: Adolescent
Chloride-Bicarbonate Antiporters
DNA chemistry
DNA genetics
DNA Mutational Analysis
Diarrhea congenital
Diarrhea diagnosis
Female
Gene Expression
Genes, Recessive
Humans
Sulfate Transporters
Antiporters genetics
Chlorides metabolism
Codon, Nonsense
Diarrhea genetics

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