Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

Author

HEINZ-ERIAN, Peter¹ ; MÜLLER, Thomas¹ ; HOLMBERG, Christer⁹ ; WIJMENGA, Cisca¹⁰ ; GRIGELIONIENE, Giedre¹¹ ; KNEEPKENS, C. M. Frank¹² ; ROSIPAL, Stefan¹³ ; MISTRIK, Martin¹⁴ ; KAPPLER, Matthias¹⁵ ; MICHAUD, Laurent¹⁶ ; DOCZY, Ludwig-Christoph¹ ; MOK SIU, Victoria¹⁷ ; KRABICHLER, Birgit² ; KRANTZ, Marie¹⁸ ; ZOLLER, Heinz³ ; UTERMANN, Gerd² ; JANECKE, Andreas R² ; SCHRANZ, Melanie³ ; BECKER, Christian⁴ ; RÜSCHENDORF, Franz⁵ ; NÜRNBERG, Peter⁴ ; ROSSIER, Bernard⁶ ; VUJIC, Mihailo⁷ ; BOOTH, Ian W⁸
[1] Department of Pediatrics II, Innsbruck Medical University, 6020 Innsbruck, Austria
[2] Division of Clinical Genetics, Innsbruck Medical University, 6020 Innsbruck, Austria
[3] Department of Gastroenterology, Innsbruck Medical University, 6020 Innsbruck, Austria
[4] Cologne Center for Genomics and Institute for Genetics, University of Cologne, 50674 Cologne, Germany
[5] Max Delbrück Centre, 13092 Berlin-Buch, Germany
[6] Department of Pharmacology, University of Lausanne, 1005 Lausanne, Switzerland
[7] Division of Clinical Genetics, University of Gothenburg, 41345 Gothenburg, Sweden
[8] Department of Pediatric Gastroenterology, Birmingham B15 2TT, United Kingdom
[9] Department of Pediatrics, University of Helsinki, 00014 Helsinki, Finland
[10] Department of Genetics, University Medical Center and University of Groningen, 9700 RB Groningen, Netherlands
[11] Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden
[12] Department of Pediatrics, University of Amsterdam, 1081 HV Amsterdam, Netherlands
[13] Pediatric Centre of Preventive Cardiovascular Medicine, 05801 Poprad-Velka, Slovakia
[14] Department of Medical Genetics, General Hospital, 05201 Spisska Nova Ves, Slovakia
[15] Department of Pediatrics, Ludwig-Maximilians University, 80337 Munich, Germany
[16] Department of Pediatric Gastroenterology, Hepatology and Nutrition, University of Lille, Lille 59037, France
[17] Department of Pediatrics, University of Western Ontario, N6C 2V5 London, Ontario, Canada
[18] Department of Pediatrics, University of Gothenburg, 41345 Gothenburg, Sweden

Source

American journal of human genetics. 2009, Vol 84, Num 2, pp 188-196, 9 p ; ref : 31 ref

CODEN

AJHGAG

ISSN

0002-9297

Scientific domain

Genetics

Publisher

Cell Press, Cambridge, MA

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Cause Congénital Diarrhée Génétique Homme Mutation Sodium Pathologie de l'appareil digestif Pathologie de l'intestin

Keyword (en)

Cause Congenital Diarrhea Genetics Human Mutation Sodium Digestive diseases Intestinal disease

Keyword (es)

Causa Congénito Diarrea Genética Hombre Mutación Sodio Aparato digestivo patología Intestino patología

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

21138903

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS