Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

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Genetic disorders of nuclear receptors.Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

P2860

Q39214888-389F0439-A431-4548-A447-11AADB0196AF Q55322270-6763239B-214E-4820-816D-319BCCFF03A3

P2860

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

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http://www.wikidata.org/entity/Q35933888

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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P1476

Dominant Retinitis Pigmentosa, ...... in a Large Cohort of 24 Cases

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P2093

Almudena Avila-Fernandez

http://www.w3.org/2001/XMLSchema#string

Blanca García Sandoval

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Fiona Blanco-Kelly

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Jose M Millan

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Maria Isabel Lopez-Molina

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María García Hoyos

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Miguel Angel Lopez Martinez

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Patricia Fernandez-San Jose

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Rosa Riveiro-Alvarez

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P2860

Retinitis pigmentosa

Rates of spontaneous mutation

The high spontaneous mutation rate: is it a health risk?

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.

Photoaversion in retinitis pigmentosa

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Expanded clinical spectrum of enhanced S-cone syndrome

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

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e0149473

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scholarly article

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10.1371/JOURNAL.PONE.0149473

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English

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Carmen Ayuso

Marta Cortón

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2016-02-24T00:00:00Z

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295891788

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26910043

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4766102

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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

about

P2860

P2860

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

description

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type

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P1433

P1476

P2093

P2860

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P356

P407

P433

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P577

P5875

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P356

P1433

P1476

P2093

P2860

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P31

P356

P407

P433

P478

P50

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P5875

P698

P932