Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

H.H. Arts; D. Doherty; S.E. van Beersum; M.A. Parisi; S.J. Letteboer; N.T. Gorden; T.A. Peters; T. Marker; K. Voesenek; A. Kartono; H. Ozyurek; F.M. Farin; H.Y. Kroes; U. Wolfrum; H.G. Brunner; F.P. Cremers; I.A. Glass; N.V. Knoers; R. Roepman

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Translated title of the contribution: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

H.H. Arts
, D. Doherty
, S.E. van Beersum
, M.A. Parisi
, S.J. Letteboer
, N.T. Gorden
, T.A. Peters
, T. Marker
, K. Voesenek
, A. Kartono
, H. Ozyurek
, F.M. Farin
, H.Y. Kroes
, U. Wolfrum
, H.G. Brunner
, F.P. Cremers
, I.A. Glass
, N.V. Knoers
, R. Roepman

Department of Genetics

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

Translated title of the contribution	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Original language	Undefined/Unknown
Pages (from-to)	882-888
Number of pages	7
Journal	Nature Genetics
Volume	39
Issue number	7
Publication status	Published - 2007

Cite this

Arts, H. H., Doherty, D., van Beersum, S. E., Parisi, M. A., Letteboer, S. J., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P., Glass, I. A., Knoers, N. V., & Roepman, R. (2007). Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics, 39(7), 882-888.

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title = "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome",

author = "H.H. Arts and D. Doherty and \{van Beersum\}, S.E. and M.A. Parisi and S.J. Letteboer and N.T. Gorden and T.A. Peters and T. Marker and K. Voesenek and A. Kartono and H. Ozyurek and F.M. Farin and H.Y. Kroes and U. Wolfrum and H.G. Brunner and F.P. Cremers and I.A. Glass and N.V. Knoers and R. Roepman",

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pages = "882--888",

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Arts, HH, Doherty, D, van Beersum, SE, Parisi, MA, Letteboer, SJ, Gorden, NT, Peters, TA, Marker, T, Voesenek, K, Kartono, A, Ozyurek, H, Farin, FM, Kroes, HY, Wolfrum, U, Brunner, HG, Cremers, FP, Glass, IA, Knoers, NV & Roepman, R 2007, 'Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome', Nature Genetics, vol. 39, no. 7, pp. 882-888.

TY - JOUR

T1 - Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

AU - Arts, H.H.

AU - Doherty, D.

AU - van Beersum, S.E.

AU - Parisi, M.A.

AU - Letteboer, S.J.

AU - Gorden, N.T.

AU - Peters, T.A.

AU - Marker, T.

AU - Voesenek, K.

AU - Kartono, A.

AU - Ozyurek, H.

AU - Farin, F.M.

AU - Kroes, H.Y.

AU - Wolfrum, U.

AU - Brunner, H.G.

AU - Cremers, F.P.

AU - Glass, I.A.

AU - Knoers, N.V.

AU - Roepman, R.

PY - 2007

Y1 - 2007

M3 - Article

SN - 1061-4036

VL - 39

SP - 882

EP - 888

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -