Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

The GUCY2D gene encodes retinal membrane guanylyl cyclase (RetGC1), a key component of the phototransduction machinery in photoreceptors. Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human retinal blinding disease. The effects of RetGC1 deficiency on hum...

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書誌詳細
主要な著者:	Samuel G. Jacobson, Artur V. Cideciyan, Igor V. Peshenko, Alexander Sumaroka, Elena V. Olshevskaya, Li-Hui Cao, Sharon Schwartz, Alejandro J. Román, Melani B. Olivares, Sam Sadigh, King‐Wai Yau, Elise Héon, Edwin M. Stone, Alexander M. Dizhoor
フォーマット:	Artigo
言語:	英語
出版事項:	2012
オンライン･アクセス:	https://doi.org/10.1093/hmg/dds421
タグ:	タグ追加タグなし, このレコードへの初めてのタグを付けませんか!

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