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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.

Esmee H. Runhart,Riccardo Sangermano,Stephanie S. Cornelis,Joke B. G. M. Verheij,Astrid S. Plomp,Camiel J. F. Boon,Dorien Lugtenberg,Susanne Roosing,Nathalie M. Bax,Ellen A. W. Blokland, Marlie H. M. Jacobs-Camps,Saskia D. van der Velde-Visser,Jan-Willem R. Pott,Klaus Rohrschneider,Alberta A. H. J. Thiadens,Caroline C. W. Klaver,L. Ingeborgh van den Born,Carel B. Hoyng,Frans P. M. Cremers

Investigative Ophthalmology & Visual Science（2018）

Cited 62|Views54
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Key words
ABCA4 protein,nonpenetrance,modifiers,Stargardt disease,retinal dystrophy
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