Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

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http://www.wikidata.org/entity/Q36051605
Dawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseNext-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaDetection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencingExome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingThe diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaApplication of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesNew COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families.PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family.
P2860

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Item
http://www.wikidata.org/entity/Q36051605
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
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2012年论文
@zh-cn
name
Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
@ast
Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
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type
label
Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
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Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
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Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
@ast
Genotyping microarray: mutatio ...... dominant retinitis pigmentosa.
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Genotyping microarray: mutatio ...... dominant retinitis pigmentosa
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P932