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- 2022
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Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
- 2011
-
Mark
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
(
- Contribution to journal › Article
- 2009
-
Mark
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
(
- Contribution to journal › Article