Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population
about
Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.Genes and mutations causing retinitis pigmentosa.The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicineNovel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeExome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophiesExome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceHomozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingHigh-throughput sequencing and rare genetic diseases.Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneMolecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome SequencingWhole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases.CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
P2860
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P2860
Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
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2012年論文
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2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes Associated with Retiniti ...... ated in the General Population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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Genes associated with retiniti ...... ated in the general population
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P2860
P1433
P1476
Genes associated with retiniti ...... ated in the general population
@en
P2093
Koji M Nishiguchi
P2860
P304
P356
10.1371/JOURNAL.PONE.0041902
P407
P577
2012-01-01T00:00:00Z