Ontology highlight
ABSTRACT:
SUBMITTER: Kitiratschky VB
PROVIDER: S-EPMC5358799 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
Kitiratschky Veronique B D VB Wilke Robert R Renner Agnes B AB Kellner Ulrich U Vadalà Maria M Birch David G DG Wissinger Bernd B Zrenner Eberhart E Kohl Susanne S
Investigative ophthalmology & visual science 20080516 11
<h4>Purpose</h4>Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone-rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders.<h4>Methods</h4>Mutation analysis was performed by direct sequencing as well as PCR and subsequent restriction length ...[more]