Article
A rare PAX6 mutation in a Chinese family with congenital aniridia.
Genetics and molecular research : GMR - 27 Oct 2015
He F, Liu D L, Chen M P, Liu L, Lu L, Ouyang M, Yang J, Gan R, Liu X Y
Abstract excerpt
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reaction, sequenced, and compared with reference sequences in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.