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

Journal of Pediatric Gastroenterology and Nutrition

Volumn 47, Issue 3, 2008, Pages 363-366

  Heinz Erian, Peter ^a,b   Oberauer, Michaela ^a   Neu, Nikolaus ^a   MÜller, Thomas ^a   Scholl Bürgi, Sabine ^a   Hager, Josef ^b   Pittschieler, Klaus ^c   Janecke, Andreas R ^a  

^a Department of Pediatrics ^*

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c Regional Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CHLORIDE; ELECTROLYTE; GUANINE; POTASSIUM; POTASSIUM CHLORIDE; SODIUM; SODIUM CHLORIDE; SOLUTE CARRIER FAMILY 26 MEMBER 3; THYROXINE; UNCLASSIFIED DRUG; ANTIPORTER; DNA; SLC26A3 PROTEIN, HUMAN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; AUSTRIA; CASE REPORT; CHLORIDE DIARRHEA; CHROMOSOME ANALYSIS; CLINICAL ASSESSMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROLYTE BLOOD LEVEL; ELECTROLYTE DISTURBANCE; EXON; FEMALE; FOLLOW UP; GASTROINTESTINAL SURGERY; GESTATIONAL AGE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTESTINE VOLVULUS; LABORATORY DIAGNOSIS; LAPAROTOMY; METABOLIC ALKALOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATIENT COMPLIANCE; PATIENT INFORMATION; PREGNANCY; PRIORITY JOURNAL; STOP CODON; CHEMISTRY; DIARRHEA; GENE EXPRESSION; GENETICS; METABOLISM; RECESSIVE GENE;

ADOLESCENT; ANTIPORTERS; CHLORIDES; CODON, NONSENSE; DIARRHEA; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; HUMANS;

EID: 58149214533     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e318174e818     Document Type: Article

References (12)

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