Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Human Mutation, EarlyView.

Source: Human Mutation - August 22, 2018 Category: Genetics & Stem Cells Authors: NicoleWeisschuh , KatarinaStingl , IsabelleAudo , SaskiaBiskup , B éatriceBocquet , KariBranham , Marie SBurstedt , ElfrideDe Baere , Meindert JDe Vries , IrinaGolovleva , AndrewGreen , JohnHeckenlively , Bart PLeroy , Isabell Source Type: research