The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

EH Runhart; R Sangermano; SS Cornelis; J Verheij; AS Plomp; CJF Boon; D Lugtenberg; S Roosing; NMA Bax; EAW Blokland; MHM Jacobs-Camps; SD van der Velde-Visser; JWR Pott; K Rohrschneider; Alberta Thiadens; Caroline Klaver; LI van den Born; CB Hoyng; FPM Cremers

doi:10.1167/iovs.18-23881

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

EH Runhart, R Sangermano, SS Cornelis, J Verheij, AS Plomp, CJF Boon, D Lugtenberg, S Roosing, NMA Bax, EAW Blokland, MHM Jacobs-Camps, SD van der Velde-Visser, JWR Pott, K Rohrschneider, Alberta Thiadens, Caroline Klaver, LI van den Born, CB Hoyng, FPM Cremers

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

74 Citations (Scopus)

16 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	3220-3231
Number of pages	12
Journal	Investigative Ophthalmology & Visual Science
Volume	59
Issue number	8
DOIs	https://doi.org/10.1167/iovs.18-23881
Publication status	Published - 2018

Research programs

EMC NIHES-01-64-01

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10.1167/iovs.18-23881

REPUB_109255_OA.pdfFinal published version, 1.32 MB

http://hdl.handle.net/1765/109255

Cite this

Runhart, EH., Sangermano, R., Cornelis, SS., Verheij, J., Plomp, AS., Boon, CJF., Lugtenberg, D., Roosing, S., Bax, NMA., Blokland, EAW., Jacobs-Camps, MHM., van der Velde-Visser, SD., Pott, JWR., Rohrschneider, K., Thiadens, A., Klaver, C., van den Born, LI., Hoyng, CB., & Cremers, FPM. (2018). The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. Investigative Ophthalmology & Visual Science, 59(8), 3220-3231. https://doi.org/10.1167/iovs.18-23881

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title = "The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants",

author = "EH Runhart and R Sangermano and SS Cornelis and J Verheij and AS Plomp and CJF Boon and D Lugtenberg and S Roosing and NMA Bax and EAW Blokland and MHM Jacobs-Camps and {van der Velde-Visser}, SD and JWR Pott and K Rohrschneider and Alberta Thiadens and Caroline Klaver and {van den Born}, LI and CB Hoyng and FPM Cremers",

year = "2018",

doi = "10.1167/iovs.18-23881",

language = "Undefined/Unknown",

volume = "59",

pages = "3220--3231",

journal = "Investigative Ophthalmology & Visual Science",

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

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Runhart, EH, Sangermano, R, Cornelis, SS, Verheij, J, Plomp, AS, Boon, CJF, Lugtenberg, D, Roosing, S, Bax, NMA, Blokland, EAW, Jacobs-Camps, MHM, van der Velde-Visser, SD, Pott, JWR, Rohrschneider, K, Thiadens, A , Klaver, C, van den Born, LI, Hoyng, CB & Cremers, FPM 2018, 'The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants', Investigative Ophthalmology & Visual Science, vol. 59, no. 8, pp. 3220-3231. https://doi.org/10.1167/iovs.18-23881

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T1 - The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

AU - Runhart, EH

AU - Sangermano, R

AU - Cornelis, SS

AU - Verheij, J

AU - Plomp, AS

AU - Boon, CJF

AU - Lugtenberg, D

AU - Roosing, S

AU - Bax, NMA

AU - Blokland, EAW

AU - Jacobs-Camps, MHM

AU - van der Velde-Visser, SD

AU - Pott, JWR

AU - Rohrschneider, K

AU - Thiadens, Alberta

AU - Klaver, Caroline

AU - van den Born, LI

AU - Hoyng, CB

AU - Cremers, FPM

PY - 2018

Y1 - 2018

U2 - 10.1167/iovs.18-23881

DO - 10.1167/iovs.18-23881

M3 - Article

C2 - 29971439

SN - 0146-0404

VL - 59

SP - 3220

EP - 3231

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 8

ER -