Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene | Zendy

Ulrika Kjellström | Zendy; Patricia VeigaCrespo | Zendy; Sten Andréasson | Zendy; Per Ekström | Zendy

Open Access

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene

Author(s) -

Ulrika Kjellström,

Patricia VeigaCrespo,

Sten Andréasson,

Per Ekström

Publication year - 2016

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-19861

Subject(s) - retinitis pigmentosa , abca4 , erg , electroretinography , ophthalmology , amaurosis , cyclic guanosine monophosphate , genotype phenotype distinction , choroideremia , medicine , genetics , genotype , biology , phenotype , retinal , gene , optometry , nitric oxide

To describe genotype and phenotype in a family with autosomal recessive retinitis pigmentosa (arRP) carrying homozygous mutations in the gene for the α-subunit of cyclic guanosine monophosphate (cGMP)-hydrolyzing phosphodiesterase 6 (PDE6A). Moreover, to compare their plasma cGMP levels to controls, exploring the possible role for cGMP in RP diagnostics.

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