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

Authors :: Runhart, E.H.
Sangermano, R.
Cornelis, S.S.
Verheij, J.B.G.M.
Plomp, A.S.
Boon, C.J.F.
Lugtenberg, D.
Roosing, S.
Bax, N.M.
Blokland, E.A.W.
Jacobs-Camps, M.H.M.
Velde-Visser, S.D. van der
Klaver, C.C.W.
Hoyng, C.B.
Cremers, F.P.M.
Runhart, E.H.
Sangermano, R.
Cornelis, S.S.
Verheij, J.B.G.M.
Plomp, A.S.
Boon, C.J.F.
Lugtenberg, D.
Roosing, S.
Bax, N.M.
Blokland, E.A.W.
Jacobs-Camps, M.H.M.
Velde-Visser, S.D. van der
Klaver, C.C.W.
Hoyng, C.B.
Cremers, F.P.M.
Source :: Investigative Ophthalmology and Visual Science; 3220; 3231; 0146-0404; 8; vol. 59; ~Investigative Ophthalmology and Visual Science~3220~3231~~~0146-0404~8~59~~
Publication Year :: 2018
Abstract: Contains fulltext : 194515.pdf (Publisher’s version ) (Open Access)

Database :: OAIster
Journal :: Investigative Ophthalmology and Visual Science; 3220; 3231; 0146-0404; 8; vol. 59; ~Investigative Ophthalmology and Visual Science~3220~3231~~~0146-0404~8~59~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1284152145
Document Type :: Electronic Resource

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