Ontology highlight
ABSTRACT:
SUBMITTER: Kabir F
PROVIDER: S-EPMC3716412 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Kabir Firoz F Naz Shagufta S Riazuddin S Amer SA Naeem Muhammad Asif MA Khan Shaheen N SN Husnain Tayyab T Akram Javed J Sieving Paul A PA Hejtmancik J Fielding JF Riazuddin Sheikh S
Molecular vision 20130719
<h4>Purpose</h4>To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families.<h4>Methods</h4>A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Genomic DNA was extracted, and genome-wide linkage and/or exclusion analyses were completed with fluorescently labeled short tandem repeat microsatellite markers. Two-point Lod scores were ca ...[more]