Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

A.I. den Hollander; R.K. Koenekoop; M.D. Mohamed; H.H. Arts; K. Boldt; K.V. Towns; T. Sedmak; M. Beer; K. Nagel-Wolfrum; M. McKibbin; S. Dharmaraj; I. Lopez; L. Ivings; G.A. Williams; K. Springell; C.G. Woods; H. Jafri; Y. Rashid; T.M. Strom; A. van der Zwaag; I. Gosens; F.F. Kersten; E. van Wijk; J.A. Veltman; M.N. Zonneveld; S.E. van Beersum; I.H. Maumenee; U. Wolfrum; M.E. Cheetham; M. Ueffing; F.P. Cremers; C.F. Inglehearn; R. Roepman

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Translated title of the contribution: Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

A.I. den Hollander
, R.K. Koenekoop
, M.D. Mohamed
, H.H. Arts
, K. Boldt
, K.V. Towns
, T. Sedmak
, M. Beer
, K. Nagel-Wolfrum
, M. McKibbin
, S. Dharmaraj
, I. Lopez
, L. Ivings
, G.A. Williams
, K. Springell
, C.G. Woods
, H. Jafri
, Y. Rashid
, T.M. Strom
, A. van der Zwaag

I. Gosens, F.F. Kersten, E. van Wijk, J.A. Veltman, M.N. Zonneveld, S.E. van Beersum, I.H. Maumenee, U. Wolfrum, M.E. Cheetham, M. Ueffing, F.P. Cremers, C.F. Inglehearn, R. Roepman

Translational Neuroscience

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

Translated title of the contribution	Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Original language	Undefined/Unknown
Pages (from-to)	889-895
Number of pages	7
Journal	Nature Genetics
Volume	39
Issue number	7
Publication status	Published - 2007

Cite this

den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., Sedmak, T., Beer, M., Nagel-Wolfrum, K., McKibbin, M., Dharmaraj, S., Lopez, I., Ivings, L., Williams, G. A., Springell, K., Woods, C. G., Jafri, H., Rashid, Y., Strom, T. M., ... Roepman, R. (2007). Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nature Genetics, 39(7), 889-895.

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title = "Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis",

author = "\{den Hollander\}, A.I. and R.K. Koenekoop and M.D. Mohamed and H.H. Arts and K. Boldt and K.V. Towns and T. Sedmak and M. Beer and K. Nagel-Wolfrum and M. McKibbin and S. Dharmaraj and I. Lopez and L. Ivings and G.A. Williams and K. Springell and C.G. Woods and H. Jafri and Y. Rashid and T.M. Strom and \{van der Zwaag\}, A. and I. Gosens and F.F. Kersten and \{van Wijk\}, E. and J.A. Veltman and M.N. Zonneveld and \{van Beersum\}, S.E. and I.H. Maumenee and U. Wolfrum and M.E. Cheetham and M. Ueffing and F.P. Cremers and C.F. Inglehearn and R. Roepman",

year = "2007",

language = "Undefined/Unknown",

volume = "39",

pages = "889--895",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "7",

}

den Hollander, AI, Koenekoop, RK, Mohamed, MD, Arts, HH, Boldt, K, Towns, KV, Sedmak, T, Beer, M, Nagel-Wolfrum, K, McKibbin, M, Dharmaraj, S, Lopez, I, Ivings, L, Williams, GA, Springell, K, Woods, CG, Jafri, H, Rashid, Y, Strom, TM, van der Zwaag, A, Gosens, I, Kersten, FF, van Wijk, E, Veltman, JA, Zonneveld, MN, van Beersum, SE, Maumenee, IH, Wolfrum, U, Cheetham, ME, Ueffing, M, Cremers, FP, Inglehearn, CF & Roepman, R 2007, 'Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis', Nature Genetics, vol. 39, no. 7, pp. 889-895.

TY - JOUR

T1 - Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

AU - den Hollander, A.I.

AU - Koenekoop, R.K.

AU - Mohamed, M.D.

AU - Arts, H.H.

AU - Boldt, K.

AU - Towns, K.V.

AU - Sedmak, T.

AU - Beer, M.

AU - Nagel-Wolfrum, K.

AU - McKibbin, M.

AU - Dharmaraj, S.

AU - Lopez, I.

AU - Ivings, L.

AU - Williams, G.A.

AU - Springell, K.

AU - Woods, C.G.

AU - Jafri, H.

AU - Rashid, Y.

AU - Strom, T.M.

AU - van der Zwaag, A.

AU - Gosens, I.

AU - Kersten, F.F.

AU - van Wijk, E.

AU - Veltman, J.A.

AU - Zonneveld, M.N.

AU - van Beersum, S.E.

AU - Maumenee, I.H.

AU - Wolfrum, U.

AU - Cheetham, M.E.

AU - Ueffing, M.

AU - Cremers, F.P.

AU - Inglehearn, C.F.

AU - Roepman, R.

PY - 2007

Y1 - 2007

M3 - Article

SN - 1061-4036

VL - 39

SP - 889

EP - 895

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -