Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.

Abstract excerpt

Tritanopia is an autosomal dominant genetic disorder of human vision characterize by a selective deficiency of blue spectral sensitivity. The defect is manifested within the retina and could be caused by a deficiency in function or numbers (or both) of blue-sensitive cone photoreceptors. We have used PCR, denaturing gradient gel electrophoresis, and DNA sequencing of amplified exons to detect in four of nine...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Base Sequence
• Share to Cloning, Molecular
• Share to DNA