Ontology highlight
ABSTRACT:
SUBMITTER: Nassisi M
PROVIDER: S-EPMC6829239 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Nassisi Marco M Mohand-Saïd Saddek S Andrieu Camille C Antonio Aline A Condroyer Christel C Méjécase Cécile C Varin Juliette J Wohlschlegel Juliette J Dhaenens Claire-Marie CM Sahel José-Alain JA Zeitz Christina C Audo Isabelle I
International journal of molecular sciences 20191011 20
We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic variant on the exonic regions of <i>ABCA4</i>. Direct Sanger sequencing of selected intronic regions of ABCA4 was conducted. Complete phenotypic analysis and correlation with the genotype was performed in case a known intronic pathogenic variant was identified. All other variants found on the analyzed sequences were queried for minor allele ...[more]