Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies

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

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 287 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease

Alessandra Maugeri, Marc A. van Driel, Dorien J.R. van de Pol et al. · The American Journal of Human Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Genotyping microarray (gene chip) for the<i>ABCR</i>(<i>ABCA4</i>) gene

Kaie Jaakson, Jana Zernant, Maigi Külm et al. · Human Mutation · 2003 · 239 citations

Medicine, Genetics, Molecular Genetics +17

ABCA4 disease progression and a proposed strategy for gene therapy

Artur V. Cideciyan, Małgorzata Świder, Tomás S. Alemán et al. · Human Molecular Genetics · 2008 · 186 citations · Full text

Medicine, Genetics, Ophthalmology +15