High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
about
The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in DrosophilaWhole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosaAutozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaEYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian PopulationTargeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations.Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafishAblation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860
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P2860
High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@en
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@nl
type
label
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@en
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@nl
prefLabel
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@en
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@nl
P2093
P356
P1476
High prevalence of mutations i ...... ecessive retinitis pigmentosa.
@en
P2093
Masaki Iwanami
Mio Oshikawa
Satoshi Nakadomari
Seishi Kato
Tomomi Nishida
P304
P356
10.1167/IOVS.11-9048
P407
P577
2012-02-27T00:00:00Z