Ontology highlight
ABSTRACT:
SUBMITTER: Riveiro-Alvarez R
PROVIDER: S-EPMC2743849 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
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
The British journal of ophthalmology 20081031 10
<h4>Aim</h4>To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population.<h4>Methods</h4>arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were analysed by two different strategies: 200 individuals were screened for the p.Arg1129Leu mutation by denaturing-HPLC and sequencing; 78 individuals were tested for variants with the microa ...[more]