Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

P. Heinz-Erian; T.H. Muller; B. Krabichler; M. Schranz; C. Becker; F. Ruschendorf; P. Nurnberg; B. Rossier; M. Vujic; I.W. Booth; C. Holmberg; C. Wijmenga; G. Grigelioniene; C.M.F. Kneepkens; S. Rosipal; M. Mistrik; M. Kappler; L. Michaud; L.C. Doczy; V.M. Siu; M. Krantz; H. Zoller; G. Utermann; A.R. Janecke

doi:10.1016/j.ajhg.2009.01.004

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

P. Heinz-Erian, T.H. Muller, B. Krabichler, M. Schranz, C. Becker, F. Ruschendorf, P. Nurnberg, B. Rossier, M. Vujic, I.W. Booth, C. Holmberg, C. Wijmenga, G. Grigelioniene, C.M.F. Kneepkens, S. Rosipal, M. Mistrik, M. Kappler, L. Michaud, L.C. Doczy, V.M. SiuM. Krantz, H. Zoller, G. Utermann, A.R. Janecke

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	188-196
Journal	American journal of human genetics
Volume	84
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2009.01.004
Publication status	Published - 2009

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10.1016/j.ajhg.2009.01.004

Cite this

Heinz-Erian, P., Muller, T. H., Krabichler, B., Schranz, M., Becker, C., Ruschendorf, F., Nurnberg, P., Rossier, B., Vujic, M., Booth, I. W., Holmberg, C., Wijmenga, C., Grigelioniene, G., Kneepkens, C. M. F., Rosipal, S., Mistrik, M., Kappler, M., Michaud, L., Doczy, L. C., ... Janecke, A. R. (2009). Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. American journal of human genetics, 84(2), 188-196. https://doi.org/10.1016/j.ajhg.2009.01.004

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title = "Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea",

author = "P. Heinz-Erian and T.H. Muller and B. Krabichler and M. Schranz and C. Becker and F. Ruschendorf and P. Nurnberg and B. Rossier and M. Vujic and I.W. Booth and C. Holmberg and C. Wijmenga and G. Grigelioniene and C.M.F. Kneepkens and S. Rosipal and M. Mistrik and M. Kappler and L. Michaud and L.C. Doczy and V.M. Siu and M. Krantz and H. Zoller and G. Utermann and A.R. Janecke",

year = "2009",

doi = "10.1016/j.ajhg.2009.01.004",

language = "Undefined/Unknown",

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pages = "188--196",

journal = "American journal of human genetics",

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Heinz-Erian, P, Muller, TH, Krabichler, B, Schranz, M, Becker, C, Ruschendorf, F, Nurnberg, P, Rossier, B, Vujic, M, Booth, IW, Holmberg, C, Wijmenga, C, Grigelioniene, G, Kneepkens, CMF, Rosipal, S, Mistrik, M, Kappler, M, Michaud, L, Doczy, LC, Siu, VM, Krantz, M, Zoller, H, Utermann, G & Janecke, AR 2009, 'Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea', American journal of human genetics, vol. 84, no. 2, pp. 188-196. https://doi.org/10.1016/j.ajhg.2009.01.004

TY - JOUR

T1 - Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

AU - Heinz-Erian, P.

AU - Muller, T.H.

AU - Krabichler, B.

AU - Schranz, M.

AU - Becker, C.

AU - Ruschendorf, F.

AU - Nurnberg, P.

AU - Rossier, B.

AU - Vujic, M.

AU - Booth, I.W.

AU - Holmberg, C.

AU - Wijmenga, C.

AU - Grigelioniene, G.

AU - Kneepkens, C.M.F.

AU - Rosipal, S.

AU - Mistrik, M.

AU - Kappler, M.

AU - Michaud, L.

AU - Doczy, L.C.

AU - Siu, V.M.

AU - Krantz, M.

AU - Zoller, H.

AU - Utermann, G.

AU - Janecke, A.R.

PY - 2009

Y1 - 2009

U2 - 10.1016/j.ajhg.2009.01.004

DO - 10.1016/j.ajhg.2009.01.004

M3 - Article

C2 - 19185281

VL - 84

SP - 188

EP - 196

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 2

ER -