Associated Papers
Two novel PDE6C gene mutations in Chinese family with achromatopsia.
Yuan S et al.
Ophthalmic Genetics, 2020
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh N et al.
Human Mutation, 2018
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
Huang L et al.
Plos One, 2013
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