Article
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Human mutation - 1 Oct 2018
Weisschuh Nicole, Stingl Katarina, Audo Isabelle, Biskup Saskia, Bocquet Béatrice, Branham Kari, Burstedt Marie S, De Baere Elfride, De Vries Meindert J, Golovleva Irina, Green Andrew, Heckenlively John, Leroy Bart P, Meunier Isabelle, Traboulsi Elias, Wissinger Bernd, Kohl Susanne
Abstract excerpt
Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade. Here, we present the results of a study comprising 176 genetically preselected patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.