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- Title
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
- Authors
Aguirre-Lamban, J; Riveiro-Alvarez, R; Maia-Lopes, S; Cantalapiedra, D; Vallespin, E; Avila-Fernandez, A; Villaverde-Montero, C; Trujillo-Tiebas, M J; Ramos, C; Ayuso, C
- Abstract
Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone-rod dystrophy (arCRD) and autosomal recessive retinitis pigmentosa (arRP). The purpose of the study was threefold: to molecularly characterise families with no mutations or partially characterised families; to determine the specificity and sensitivity of the genotyping microarray; and to evaluate the efficiency of different methodologies.
- Publication
The British journal of ophthalmology, 2009, Vol 93, Issue 5, p614
- ISSN
1468-2079
- Publication type
Journal Article
- DOI
10.1136/bjo.2008.145193