The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants | Zendy

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

Open Access

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present intransWith Severe Variants

Author(s) -

Esmee H. Runhart,

Riccardo Sangermano,

Stéphanie S. Cornelis,

Joanne 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

Publication year - 2018

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-23881

Subject(s) - abca4 , proband , penetrance , stargardt disease , allele , genetics , asymptomatic , biology , disease , mutation , medicine , gene , phenotype

To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants.

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