Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea-Reference-Cited by-同舟云学术

Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

Published:2009-02 Issue:2 Volume:84 Page:188-196
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Heinz-Erian Peter,Müller Thomas,Krabichler Birgit,Schranz Melanie,Becker Christian,Rüschendorf Franz,Nürnberg Peter,Rossier Bernard,Vujic Mihailo,Booth Ian W.,Holmberg Christer,Wijmenga Cisca,Grigelioniene Giedre,Kneepkens C. M. Frank,Rosipal Stefan,Mistrik Martin,Kappler Matthias,Michaud Laurent,Dóczy Ludwig-Christoph,Siu Victoria Mok,Krantz Marie,Zoller Heinz,Utermann Gerd,Janecke Andreas R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea;Booth;Lancet,1985

2. Congenital Na+ diarrhea: a new type of secretory diarrhea;Holmberg;J. Pediatr.,1985

3. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes;Muller;Gastroenterology,2000

4. Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea;Keller;Gut,1990

5. Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea;Fell;J. Pediatr. Gastroenterol. Nutr.,1992

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