Ontology highlight
ABSTRACT:
SUBMITTER: Khan MI
PROVIDER: S-EPMC3003713 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Khan Muhammad Imran MI Collin Rob W J RW Arimadyo Kentar K Micheal Shazia S Azam Maleeha M Qureshi Nadeem N Faradz Sultana M H SM den Hollander Anneke I AI Qamar Raheel R Cremers Frans P M FP
Molecular vision 20101215
<h4>Purpose</h4>To describe two novel mutations in the eyes shut homolog (EYS) gene in two families with autosomal recessive retinitis pigmentosa (arRP) from Pakistan and Indonesia.<h4>Methods</h4>Genome-wide linkage and homozygosity mapping were performed using single nucleotide polymorphism microarray analysis in affected members of the two arRP families. Sequence analysis was performed to identify genetic changes in protein coding exons of EYS.<h4>Results</h4>In the Indonesian and Pakistani f ...[more]