Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
about
Achromatopsia caused by novel missense mutations in the CNGA3 gene.Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia.CNGB3 mutations cause severe rod dysfunction.In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.
P2860
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年學術文章
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2010年學術文章
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name
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@en
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@nl
type
label
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@en
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@nl
prefLabel
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@en
Clinical and genetic investiga ...... nsense mutation in GNAT2 gene.
@nl
P2093
P2860
P356
P1476
Clinical and genetic investiga ...... onsense mutation in GNAT2 gene
@en
P2093
Ahlem Merdassi
Daniel F Schorderet
Farah Ouechtati
Francis L Munier
Houyem Ouragini
Kaouther Derouiche
Karim Baklouti
Leila El Matri
Leila Largueche
Leila Tiab
P2860
P2888
P356
10.1038/JHG.2010.128
P577
2010-11-25T00:00:00Z