ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Visual Acuities “Hand Motion” and “Counting Fingers” Can Be Quantified with the Freiburg Visual Acuity Test

Kilian Schulze-Bonsel, Nicolas Feltgen, H Burau et al. · Investigative Ophthalmology & Visual Science · 2006 · 978 citations

Medicine, Ophthalmology, Optometry +17

Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice

Jian Weng, Nathan L. Mata, Sassan M. Azarian et al. · Cell · 1999 · 882 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutation of the Stargardt Disease Gene ( <i>ABCR</i> ) in Age-Related Macular Degeneration

Rando Allikmets, Noah F. Shroyer, Nanda Singh et al. · Science · 1997 · 878 citations

Medicine, Genetics, Molecular Genetics +17

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

F. P. M. Cremers · Human Molecular Genetics · 1998 · 554 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy

Alessandra Maugeri, B. Jeroen Klevering, Klaus Rohrschneider et al. · The American Journal of Human Genetics · 2000 · 345 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7