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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

Authors :
Heinz-Erian, Peter
Muller, Thomas
Krabichler, Birgit
Schranz, Melanie
Ruschendorf, Franz
Becker, Christian
Nurnberg, Peter
Rossier, Bernard
Vujic, Mihalio
Booth, Ian W.
Holmberg, Christer
Wijmenga, Cisca
Grigelioniene, Giedre
Kneepkens, C.M. Frank
Rosipal, Stefan
Mistrik, Martin
Kappler, Matthias
Michaud, Laurent
Doczy, Ludwig-Christoph
Siu, Victoria Mok
Krantz, Marie
Zoller, Heinz
Utermann, Gerd
Janecke, Andreas R.
Source :
American Journal of Human Genetics. Feb 13, 2009, Vol. 84 Issue 2, p188, 9 p.
Publication Year :
2009

Abstract

A genome-wide SNP scan is used to study the characteristics and causes of the syndromic form of the autosomal-recessive congenital sodium diarrhea (CSD). The classic CSD is shown to be distinct from the syndromic CSD, which is shown to be caused by the mutations caused in SPINT2.

Details

Language :
English
ISSN :
00029297
Volume :
84
Issue :
2
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.221456305