Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

(2010) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

(2009) Alberta A.H.J. Thiadens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Human Cone Phosphodiesterase-6 Ectopically Expressed inXenopus laevisRods

(2009) Hakim Muradov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

(2009) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Structure of the GAF A Domain from Phosphodiesterase 6C Reveals Determinants of cGMP Binding, a Conserved Binding Surface, and a Large cGMP-dependent Conformational Change

(2008) Sergio E. Martinez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY