Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea (Q24324212)

serine-type endopeptidase inhibitor activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Peter Nürnberg

7

0 references

Cisca Wijmenga

12

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Franz Rüschendorf

6

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C M Frank Kneepkens

14

C M Frank Kneepkens

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Andreas Janecke

Andreas R Janecke

24

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Giedre Grigelioniene

Giedre Grigelioniene

13

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Laurent Michaud

Laurent Michaud

18

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Christian Becker

5

Christian Becker

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author name string

Peter Heinz-Erian

1

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Thomas Müller

2

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Birgit Krabichler

3

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Melanie Schranz

4

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Bernard Rossier

8

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Mihailo Vujic

9

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Ian W Booth

10

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Christer Holmberg

11

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Stefan Rosipal

15

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Martin Mistrik

16

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Matthias Kappler

17

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Ludwig-Christoph Dóczy

19

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Victoria Mok Siu

20

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Marie Krantz

21

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Heinz Zoller

22

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Gerd Utermann

American Journal of Human Genetics

23

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language of work or name

English

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publication date

February 2009

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published in

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volume

84

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issue

2

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page(s)

188-96

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29 November 2018

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Congenital Na+ diarrhea: a new type of secretory diarrhea

29 November 2018

1 reference

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Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea

29 November 2018

1 reference

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Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19185281

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of Na(+)-H(+) exchanger isoform NHE3 and dipeptidyl peptidase IV in the renal proximal tubule

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19185281

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19185281