Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

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Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

Heinz-Erian, Peter (author)

Mueller, Thomas (author)

Krabichler, Birgit (author)

Schranz, Melanie (author)

Becker, Christian (author)

Rueschendorf, Franz (author)

Nuernberg, Peter (author)

Rossier, Bernard (author)

Vujic, Mihailo, 1945 (author): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics

Booth, Ian W. (author)

Holmberg, Christer (author)

Wijmenga, Cisca (author)

Grigelioniene, Giedre (author): Karolinska Institutet

Kneepkens, C. M. Frank (author)

Rosipal, Stefan (author)

Mistrik, Martin (author)

Kappler, Matthias (author)

Michaud, Laurent (author)

Doczy, Ludwig-Christoph (author)

Siu, Victoria Mok (author)

Krantz, Marie, 1948 (author): Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences

Zoller, Heinz (author)

Utermann, Gerd (author)

Janecke, Andreas R. (author)

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Elsevier BV, 2009
2009
English.
In: AMERICAN JOURNAL OF HUMAN GENETICS. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 84:2, s. 188-196

Related links:: http://www.cell.com/...; show more...; https://gup.ub.gu.se...; https://doi.org/10.1...; http://kipublication...; show less...

Journal article (peer-reviewed)

Subject headings

NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)

Keyword

serine-protease inhibitor
secretory diarrhea
cystic-fibrosis
na+ transport
exchange
gene
identification
association
channel
disease

Publication and Content Type

ref (subject category)
art (subject category)

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NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Genetics

Articles in the publication: AMERICAN JOURNAL ...

By the university: University of Gothenburg; Karolinska Institutet

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