Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Analysis of the ABCA4 gene by next-generation sequencing.
Investigative Ophthalmology & Visual Science
Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R
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
Publication Date: 2009-05
Variant appearance in text: ABCA4: 1029T>C; Asn343Asn