Congenital Achromatopsia and Macular Atrophy Caused by a Novel RecessivePDE6CMutation (p.E591K)

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

(2014) Satoshi Katagiri et al.   PLoS One

Clinical utility gene card for: Achromatopsia - update 2013

(2013) Susanne Kohl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

(2013) Li Huang et al.   PLoS One

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

(2012) Susanne Kohl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Tanja Grau et al.   HUMAN MOLECULAR GENETICS

Analysis of Disease-Linked Rhodopsin Mutations Based on Structure, Function, and Protein Stability Calculations

(2010) Elizabeth P. Rakoczy et al.   JOURNAL OF MOLECULAR BIOLOGY

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

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

Electroretinograms in patients with achromatopsia

(2009) Sten Andréasson et al.   ACTA OPHTHALMOLOGICA

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

Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the γ-subunit

(2009) Brandy Barren et al.   EMBO JOURNAL

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