Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

S Roosing; K Rohrschneider; A Beryozkin; D Sharon; N Weisschuh; J Staller; S Kohl; L Zelinger; TA Peters; K Neveling; TM Strom; LI van den Bom; CB (Carel) Hoyng; Caroline Klaver; R Roepman; B Wissinger; E Banin; FPM Cremers; AI Hollander

doi:10.1016/j.ajhg.2013.05.005

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

S Roosing, K Rohrschneider, A Beryozkin, D Sharon, N Weisschuh, J Staller, S Kohl, L Zelinger, TA Peters, K Neveling, TM Strom, LI van den Bom, CB (Carel) Hoyng, Caroline Klaver, R Roepman, B Wissinger, E Banin, FPM Cremers, AI Hollander

Ophthalmology

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

74 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	110-117
Number of pages	8
Journal	American Journal of Human Genetics
Volume	93
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2013.05.005
Publication status	Published - 2013

Research programs

EMC NIHES-01-64-01
EMC OR-01-60-01

Access to Document

10.1016/j.ajhg.2013.05.005

http://hdl.handle.net/1765/54752

Cite this

Roosing, S., Rohrschneider, K., Beryozkin, A., Sharon, D., Weisschuh, N., Staller, J., Kohl, S., Zelinger, L., Peters, TA., Neveling, K., Strom, TM., van den Bom, LI., Hoyng, CB., Klaver, C., Roepman, R., Wissinger, B., Banin, E., Cremers, FPM., & Hollander, AI. (2013). Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy. American Journal of Human Genetics, 93(1), 110-117. https://doi.org/10.1016/j.ajhg.2013.05.005

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author = "S Roosing and K Rohrschneider and A Beryozkin and D Sharon and N Weisschuh and J Staller and S Kohl and L Zelinger and TA Peters and K Neveling and TM Strom and {van den Bom}, LI and Hoyng, {CB (Carel)} and Caroline Klaver and R Roepman and B Wissinger and E Banin and FPM Cremers and AI Hollander",

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doi = "10.1016/j.ajhg.2013.05.005",

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Roosing, S, Rohrschneider, K, Beryozkin, A, Sharon, D, Weisschuh, N, Staller, J, Kohl, S, Zelinger, L, Peters, TA, Neveling, K, Strom, TM, van den Bom, LI, Hoyng, CB, Klaver, C, Roepman, R, Wissinger, B, Banin, E, Cremers, FPM & Hollander, AI 2013, 'Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy', American Journal of Human Genetics, vol. 93, no. 1, pp. 110-117. https://doi.org/10.1016/j.ajhg.2013.05.005

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T1 - Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

AU - Roosing, S

AU - Rohrschneider, K

AU - Beryozkin, A

AU - Sharon, D

AU - Weisschuh, N

AU - Staller, J

AU - Kohl, S

AU - Zelinger, L

AU - Peters, TA

AU - Neveling, K

AU - Strom, TM

AU - van den Bom, LI

AU - Hoyng, CB (Carel)

AU - Klaver, Caroline

AU - Roepman, R

AU - Wissinger, B

AU - Banin, E

AU - Cremers, FPM

AU - Hollander, AI

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.05.005

DO - 10.1016/j.ajhg.2013.05.005

M3 - Article

C2 - 23746546

SN - 0002-9297

VL - 93

SP - 110

EP - 117

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -