Ontology highlight
ABSTRACT:
SUBMITTER: Torkashvand A
PROVIDER: S-EPMC6127359 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Torkashvand Ali A Mohebbi Masoomeh M Hashemi Hassan H
Journal of current ophthalmology 20180307 3
<h4>Purpose</h4>The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.<h4>Methods</h4>The entire coding region of paired box gene 6 (<i>PAX6</i>) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database.<h4>Results</h4>A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected me ...[more]