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PDE6C gene

Known as: COD4, PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME, ACHM5 
National Institutes of Health

Related topics

Related topics

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CONE DYSTROPHY 4 (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Two novel PDE6C gene mutations in Chinese family with achromatopsia
ABSTRACT Background: Achromatopsia (ACHM) is an inherited retinal disease affecting the cone cell function. To date, six… 
2015
2015
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)
Abstract Purpose: We have previously reported clinical features of two siblings, a sister with complete achromatopsia (ACHM) and… 
2012
2012
Assessment of diabetic retinopathy by measuring retina-specific mRNA in blood
Introduction: Diabetic retinopathy (DR) is the leading cause of blindness in adults. Early detection and treatment of DR has been… 
Review
2010
Review
2010
Update on genetics in inherited retinal disease
Purpose To provide an overview of the recent developments in genetics of inherited retinal dystrophies and dysfunctions. 
2009
2009
Characterization of Human Cone Phosphodiesterase-6 Ectopically Expressed in Xenopus laevis Rods*
PDE6 (phosphodiesterase-6) is the effector molecule in the vertebrate phototransduction cascade. Progress in understanding the… 
2009
2009
Functional Analysis of PDE6C Mutations Associated With Autosomal Recessive Achromatopsia
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