Results 191 to 199 of about 5,408 (199)

An ABCA4 genomic deletion in patients with Stargardt disease†

Human Mutation, 2003
James R. Lupski, Alexander N Yatsenko, Noah F. Shroyer   +2 more
exaly  

Gene symbol: ABCA4. Disease: Macular dystrophy.

Human genetics, 2008
Susana, Maia-Lopes, M, Castelo-Branco, E, Silva, J, Aguirre, R, Riveiro-Alvarez, M J, Trujillo-Tiebas, C, Ayuso   +6 more
openaire   +11 more sources

ABCR and Rim Protein (for ABCA4)

2012
openaire   +1 more source

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2009
Robert S Molday
exaly  

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

Ophthalmology, 2018
Anthony T Moore, Angelos Kalitzeos, Michel Michaelides   +2 more
exaly  

Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa†‡

Human Mutation, 2004
Rıza Köksal Özgül, Debora B Farber, Cihan Oner   +2 more
exaly  

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Genetics in Medicine, 2019
David Goldstein, Stephen Tsang, Nicholas Stong   +2 more
exaly  

ABCA4 trans-splicing molecules

KRUMBACH REBEKKA, DOOLEY SCOTT, DOI AKIKO, BURKHART KIRK, GRAY JESSE, PENG LINGTAO, WU DENNIS, NOMA AKIKO, GOSIK KIRK, SLOMOVIC SHIMYN, CLEMENS ADAM, BELL ROBERT   +11 more
openaire   +1 more source

GENE THERAPIES FOR STARGARDT DISEASE (ABCA4)

2020
openaire   +3 more sources