Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
about
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and TreatmentThe human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina.Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Achromatopsia caused by novel missense mutations in the CNGA3 gene.CNGA3 mutations in two United Arab Emirates families with achromatopsia.Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactionsNovel CNGA3 mutations in Chinese patients with achromatopsia.Achromatopsia as a potential candidate for gene therapy.Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
P2860
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P2860
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
description
2006 nî lūn-bûn
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2006 թուականին հրատարակուած գիտական յօդուած
@hyw
2006 թվականին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@ast
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@en
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@nl
type
label
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@ast
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@en
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@nl
prefLabel
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@ast
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@en
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@nl
P2093
P2860
P1433
P1476
Compound heterozygous CNGA3 mu ...... with congenital achromatopsia
@en
P2093
Akiko Kubo
Kenji Kitahara
Satoshi Goto-Omoto
Takaaki Hayashi
Tamaki Gekka
Tomokazu Takeuchi
P2860
P304
P356
10.1017/S095252380623308X
P407
P577
2006-01-01T00:00:00Z