Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

A.A.H.J. Thiadens; A.I. Den Hollander; S. Roosing; S.B. Nabuurs; R.C. Zekveld-Vroon; R.W.J. Collin; E. De Baere; R.K. Koenekoop; M.J. Van Schooneveld; T.M. Strom; J.J.C. Van Lith-Verhoeven; A.J. Lotery; N. Van Moll-Ramirez; B.P. Leroy; L.I. Van den Born; C.B. Hoyng; F.P.M. Cremers; C.C. Klaver

doi:10.1016/j.ajhg.2009.06.016

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

A.A.H.J. Thiadens
, A.I. Den Hollander
, S. Roosing
, S.B. Nabuurs
, R.C. Zekveld-Vroon
, R.W.J. Collin
, E. De Baere
, R.K. Koenekoop
, M.J. Van Schooneveld
, T.M. Strom
, J.J.C. Van Lith-Verhoeven
, A.J. Lotery
, N. Van Moll-Ramirez
, B.P. Leroy
, L.I. Van den Born
, C.B. Hoyng
, F.P.M. Cremers
, C.C. Klaver

Netherlands Institute for Neuroscience (NIN)

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

183 Citations (Scopus)

Original language	English
Pages (from-to)	240-247
Journal	American Journal of Human Genetics
Volume	85
DOIs	https://doi.org/10.1016/j.ajhg.2009.06.016
Publication status	Published - 2009

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10.1016/j.ajhg.2009.06.016

Cite this

Thiadens, A. A. H. J., Den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., Van Schooneveld, M. J., Strom, T. M., Van Lith-Verhoeven, J. J. C., Lotery, A. J., Van Moll-Ramirez, N., Leroy, B. P., Van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., & Klaver, C. C. (2009). Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. American Journal of Human Genetics, 85, 240-247. https://doi.org/10.1016/j.ajhg.2009.06.016

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title = "Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.",

author = "A.A.H.J. Thiadens and \{Den Hollander\}, A.I. and S. Roosing and S.B. Nabuurs and R.C. Zekveld-Vroon and R.W.J. Collin and \{De Baere\}, E. and R.K. Koenekoop and \{Van Schooneveld\}, M.J. and T.M. Strom and \{Van Lith-Verhoeven\}, J.J.C. and A.J. Lotery and \{Van Moll-Ramirez\}, N. and B.P. Leroy and \{Van den Born\}, L.I. and C.B. Hoyng and F.P.M. Cremers and C.C. Klaver",

note = "Reporting year: 2009",

year = "2009",

doi = "10.1016/j.ajhg.2009.06.016",

language = "English",

volume = "85",

pages = "240--247",

journal = "American Journal of Human Genetics",

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Thiadens, AAHJ, Den Hollander, AI, Roosing, S, Nabuurs, SB, Zekveld-Vroon, RC, Collin, RWJ, De Baere, E, Koenekoop, RK, Van Schooneveld, MJ, Strom, TM, Van Lith-Verhoeven, JJC, Lotery, AJ, Van Moll-Ramirez, N, Leroy, BP, Van den Born, LI, Hoyng, CB, Cremers, FPM & Klaver, CC 2009, 'Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.', American Journal of Human Genetics, vol. 85, pp. 240-247. https://doi.org/10.1016/j.ajhg.2009.06.016

TY - JOUR

T1 - Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

AU - Thiadens, A.A.H.J.

AU - Den Hollander, A.I.

AU - Roosing, S.

AU - Nabuurs, S.B.

AU - Zekveld-Vroon, R.C.

AU - Collin, R.W.J.

AU - De Baere, E.

AU - Koenekoop, R.K.

AU - Van Schooneveld, M.J.

AU - Strom, T.M.

AU - Van Lith-Verhoeven, J.J.C.

AU - Lotery, A.J.

AU - Van Moll-Ramirez, N.

AU - Leroy, B.P.

AU - Van den Born, L.I.

AU - Hoyng, C.B.

AU - Cremers, F.P.M.

AU - Klaver, C.C.

N1 - Reporting year: 2009

PY - 2009

Y1 - 2009

U2 - 10.1016/j.ajhg.2009.06.016

DO - 10.1016/j.ajhg.2009.06.016

M3 - Article

SN - 0002-9297

VL - 85

SP - 240

EP - 247

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -