Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
β Scribed by Riveiro-Alvarez, Rosa; Lopez-Martinez, Miguel-Angel; Zernant, Jana; Aguirre-Lamban, Jana; Cantalapiedra, Diego; Avila-Fernandez, Almudena; Gimenez, Ascension; Lopez-Molina, Maria-Isabel; Garcia-Sandoval, Blanca; Blanco-Kelly, Fiona; Corton, Marta; Tatu, Sorina; Fernandez-San Jose, Patricia; Trujillo-Tiebas, Maria-Jose; Ramos, Carmen; Allikmets, Rando; Ayuso, Carmen
- Book ID
- 123322392
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 144 KB
- Volume
- 120
- Category
- Article
- ISSN
- 0161-6420
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π SIMILAR VOLUMES
The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fund