MonoallelicABCA4Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study | Zendy

Philipp L. Müller | Zendy; Martin Gliem | Zendy; Elisabeth Mangold | Zendy; Hanno J. Bolz | Zendy; Robert P. Finger | Zendy; Myra B. McGuinness | Zendy; Christian Betz | Zendy; Zhichun Jiang | Zendy; Bernhard H. F. Weber | Zendy; Robert E. MacLaren | Zendy; Frank G. Holz | Zendy; Roxana A. Radu | Zendy; Peter Charbel Issa | Zendy

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MonoallelicABCA4Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

Author(s) -

Philipp L. Müller,

Martin Gliem,

Elisabeth Mangold,

Hanno J. Bolz,

Robert P. Finger,

Myra B. McGuinness,

Christian Betz,

Zhichun Jiang,

Bernhard H. F. Weber,

Robert E. MacLaren,

Frank G. Holz,

Roxana A. Radu,

Peter Charbel Issa

Publication year - 2015

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.15-17629

Subject(s) - abca4 , lipofuscin , stargardt disease , missense mutation , biology , phenotype , autofluorescence , medicine , retinal , endocrinology , genetics , biochemistry , gene , fluorescence , physics , quantum mechanics

To investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice.

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