Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

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Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

P2860

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P2860

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

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http://www.wikidata.org/entity/Q36098417

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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Molecular Heterogeneity Within ...... icentral Retinal Degeneration.

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Molecular Heterogeneity Within ...... icentral Retinal Degeneration.

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Molecular Heterogeneity Within ...... icentral Retinal Degeneration.

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Molecular Heterogeneity Within ...... icentral Retinal Degeneration.

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Molecular Heterogeneity Within ...... icentral Retinal Degeneration.

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P1476

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration

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P2093

Alejandro J Roman

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Alexander Sumaroka

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Artur V Cideciyan

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Malgorzata Swider

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Rebecca Sheplock

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Rodrigo Matsui

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Sharon B Schwartz

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Wei Chieh Huang

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P2860

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

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

Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.

P304

6007-6018

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scholarly article

P356

10.1167/IOVS.15-17174

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English

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P478

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Samuel G. Jacobson

P577

2015-09-01T00:00:00Z

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P5875

282131023

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26393467

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4585343

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Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

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P2860

P2860

Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.

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P407

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