Associated Papers
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
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
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T et al.
Human Molecular Genetics, 2011
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Chang B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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