Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

P. Gissen; C.A. Johnson; N.V. Morgan; J.M. Stapelbroek; T. Forshew; W.N. Cooper; P.J. McKiernan; L.W.J. Klomp; A.A.M. Morris; J.E. Wraith; P. McClean; S.A. Lynch; R.J. Thompson; B. Lo; O.W. Quarrel; M. DiRocco; R.C. Trembath; H. Mandel; S. Wali; F.E. Karet; A.S. Knisely; R.H.J. Houwen; D.A. Kelly; E. Maher

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Translated title of the contribution: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

P. Gissen
, C.A. Johnson
, N.V. Morgan
, J.M. Stapelbroek
, T. Forshew
, W.N. Cooper
, P.J. McKiernan
, L.W.J. Klomp
, A.A.M. Morris
, J.E. Wraith
, P. McClean
, S.A. Lynch
, R.J. Thompson
, B. Lo
, O.W. Quarrel
, M. DiRocco
, R.C. Trembath
, H. Mandel
, S. Wali
, F.E. Karet

A.S. Knisely, R.H.J. Houwen, D.A. Kelly, E. Maher

Gastroenterology & Hepatology

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

Translated title of the contribution	Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Original language	Undefined/Unknown
Pages (from-to)	400-404
Number of pages	5
Journal	Nature Genetics
Volume	36
Publication status	Published - 2004

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

Gissen, P., Johnson, C. A., Morgan, N. V., Stapelbroek, J. M., Forshew, T., Cooper, W. N., McKiernan, P. J., Klomp, L. W. J., Morris, A. A. M., Wraith, J. E., McClean, P., Lynch, S. A., Thompson, R. J., Lo, B., Quarrel, O. W., DiRocco, M., Trembath, R. C., Mandel, H., Wali, S., ... Maher, E. (2004). Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genetics, 36, 400-404.

@article{723330bb36bd4365b9a80abf2c54a3c0,

title = "Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "P. Gissen and C.A. Johnson and N.V. Morgan and J.M. Stapelbroek and T. Forshew and W.N. Cooper and P.J. McKiernan and L.W.J. Klomp and A.A.M. Morris and J.E. Wraith and P. McClean and S.A. Lynch and R.J. Thompson and B. Lo and O.W. Quarrel and M. DiRocco and R.C. Trembath and H. Mandel and S. Wali and F.E. Karet and A.S. Knisely and R.H.J. Houwen and D.A. Kelly and E. Maher",

year = "2004",

language = "Undefined/Unknown",

volume = "36",

pages = "400--404",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

}

Gissen, P, Johnson, CA, Morgan, NV, Stapelbroek, JM, Forshew, T, Cooper, WN, McKiernan, PJ, Klomp, LWJ, Morris, AAM, Wraith, JE, McClean, P, Lynch, SA, Thompson, RJ, Lo, B, Quarrel, OW, DiRocco, M, Trembath, RC, Mandel, H, Wali, S, Karet, FE, Knisely, AS, Houwen, RHJ, Kelly, DA & Maher, E 2004, 'Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome', Nature Genetics, vol. 36, pp. 400-404.

TY - JOUR

T1 - Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

AU - Gissen, P.

AU - Johnson, C.A.

AU - Morgan, N.V.

AU - Stapelbroek, J.M.

AU - Forshew, T.

AU - Cooper, W.N.

AU - McKiernan, P.J.

AU - Klomp, L.W.J.

AU - Morris, A.A.M.

AU - Wraith, J.E.

AU - McClean, P.

AU - Lynch, S.A.

AU - Thompson, R.J.

AU - Lo, B.

AU - Quarrel, O.W.

AU - DiRocco, M.

AU - Trembath, R.C.

AU - Mandel, H.

AU - Wali, S.

AU - Karet, F.E.

AU - Knisely, A.S.

AU - Houwen, R.H.J.

AU - Kelly, D.A.

AU - Maher, E.

PY - 2004

Y1 - 2004

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 1061-4036

VL - 36

SP - 400

EP - 404

JO - Nature Genetics

JF - Nature Genetics

ER -