Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient

Background: The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystrophy (adCRD) and autosomal recessive Lebe...

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Veröffentlicht in:	Journal of Nippon Medical School 2020/04/15, Vol.87(2), pp.92-99
Hauptverfasser:	Takeda, Yukito, Kubota, Daiki, Oishi, Noriko, Maruyama, Kaori, Gocho, Kiyoko, Yamaki, Kunihiko, Igarashi, Tsutomu, Takahashi, Hiroshi, Kameya, Shuhei
Format:	Artikel
Sprache:	eng
Schlagworte:	adCRD cone rod dystrophy ERG GUCY2D hotspot
Online-Zugang:	Volltext
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