Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021
Variant appearance in text: ABCA4: 2888del; Gly963Alafs*14
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Scientific Reports
Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J
Publication Date: 2018-10-18
Variant appearance in text: ABCA4: 2888_2888del; Gly963fs
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
The British Journal Of Ophthalmology
Aguirre-Lamban, J J; Riveiro-Alvarez, R R; Maia-Lopes, S S; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Villaverde-Montero, C C; Trujillo-Tiebas, M J MJ; Ramos, C C; Ayuso, C C
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
The British Journal Of Ophthalmology
Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C