Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
about
Gene therapy rescues cone function in congenital achromatopsia.Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsGene Expression Profiling of the Optic Nerve Head of Patients with Primary Open-Angle Glaucoma.Integrity of the cone photoreceptor mosaic in oligocone trichromacy.Photoreceptor structure and function in patients with congenital achromatopsia.Naturally occurring animal models with outer retina phenotypes.The function of dog models in developing gene therapy strategies for human health.A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.The cone dysfunction syndromes.Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
P2860
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P2860
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@ast
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@en
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@nl
type
label
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@ast
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@en
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@nl
prefLabel
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@ast
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@en
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
@nl
P2093
P356
P1476
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
@en
P2093
Arne Lund Jorgensen
Bernd Wissinger
Britta Baumann
Thomas Rosenberg
P304
P356
10.1167/IOVS.04-0317
P407
P577
2004-12-01T00:00:00Z