A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

K.W. Littink; J.W. Pott; R.W. Collin; H.Y. Kroes; J.B. Verheij; E.A. Blokland; M. de Castro Miro; C.B. Hoyng; C.C. Klaver; R.K. Koenekoop; K Rohrschneider; F.P. Cremers; L.I. van den Born; A.I. den Hollander

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

Translated title of the contribution: A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

K.W. Littink, J.W. Pott, R.W. Collin, H.Y. Kroes, J.B. Verheij, E.A. Blokland, M. de Castro Miro, C.B. Hoyng, C.C. Klaver, R.K. Koenekoop, K Rohrschneider, F.P. Cremers, L.I. van den Born, A.I. den Hollander

Research output: Contribution to journal › Article › Academic

Translated title of the contribution	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype
Original language	Undefined/Unknown
Pages (from-to)	3646-3652
Number of pages	7
Journal	Investigative ophthalmology & visual science
Volume	51
Issue number	7
Publication status	Published - 2010

Cite this

Littink, K. W., Pott, J. W., Collin, R. W., Kroes, H. Y., Verheij, J. B., Blokland, E. A., de Castro Miro, M., Hoyng, C. B., Klaver, C. C., Koenekoop, R. K., Rohrschneider, K., Cremers, F. P., van den Born, L. I., & den Hollander, A. I. (2010). A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Investigative ophthalmology & visual science, 51(7), 3646-3652.

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title = "A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype",

author = "K.W. Littink and J.W. Pott and R.W. Collin and H.Y. Kroes and J.B. Verheij and E.A. Blokland and {de Castro Miro}, M. and C.B. Hoyng and C.C. Klaver and R.K. Koenekoop and K Rohrschneider and F.P. Cremers and {van den Born}, L.I. and {den Hollander}, A.I.",

year = "2010",

language = "Undefined/Unknown",

volume = "51",

pages = "3646--3652",

journal = "Investigative ophthalmology & visual science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "7",

}

Littink, KW, Pott, JW, Collin, RW, Kroes, HY, Verheij, JB, Blokland, EA, de Castro Miro, M, Hoyng, CB, Klaver, CC, Koenekoop, RK, Rohrschneider, K, Cremers, FP, van den Born, LI & den Hollander, AI 2010, 'A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype', Investigative ophthalmology & visual science, vol. 51, no. 7, pp. 3646-3652.

TY - JOUR

T1 - A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

AU - Littink, K.W.

AU - Pott, J.W.

AU - Collin, R.W.

AU - Kroes, H.Y.

AU - Verheij, J.B.

AU - Blokland, E.A.

AU - de Castro Miro, M.

AU - Hoyng, C.B.

AU - Klaver, C.C.

AU - Koenekoop, R.K.

AU - Rohrschneider, K

AU - Cremers, F.P.

AU - van den Born, L.I.

AU - den Hollander, A.I.

PY - 2010

Y1 - 2010

M3 - Article

SN - 0146-0404

VL - 51

SP - 3646

EP - 3652

JO - Investigative ophthalmology & visual science

JF - Investigative ophthalmology & visual science

IS - 7

ER -