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

Authors :
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, Alberta
Klaver, Caroline
van den Born, LI
Hoyng, CB
Cremers, FPM
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, Alberta
Klaver, Caroline
van den Born, LI
Hoyng, CB
Cremers, FPM
Source :
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 .
Publication Year :
2018

Details

Database :
OAIster
Journal :
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 .
Notes :
application/pdf, und
Publication Type :
Electronic Resource
Accession number :
edsoai.on1313623770
Document Type :
Electronic Resource