Clinical and genetic features in Italian Bietti crystalline dystrophy patients - Wikidata - awgldk - TriplyDB

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

http://www.wikidata.org/entity/Q36638006

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Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy Smartphone-based Video of Demodex folliculorum In Biopsied Human Eyelash Follicles.Generation and characterization of a murine model of Bietti crystalline dystrophy High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.Acetazolamide for cystoid macular oedema in Bietti crystalline retinal dystrophy An Overview of Rare and Unusual Clinical Features of Bietti's Crystalline Dystrophy Cystoid Macular Edema in Bietti's Crystalline Retinopathy.Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.Comprehensive screening of in a cohort of Chinese patients with Bietti crystalline dystrophy

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P2860

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

http://www.wikidata.org/entity/Q36638006

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2012 nî lūn-bûn

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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

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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Clinical and genetic features in Italian Bietti crystalline dystrophy patients

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BJOPHTHALMOL-2012-302469

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British Journal of Ophthalmology

P1476

Clinical and genetic features in Italian Bietti crystalline dystrophy patients

@en

P2093

Anren Li

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Carlo Gesualdo

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Francesca Simonelli

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Francesco Testa

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Fulya Yaylacioğlu

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J Fielding Hejtmancik

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Settimio Rossi

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P2860

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

A perfect message: RNA surveillance and nonsense-mediated decay

Prevalence and mode of inheritance of major genetic eye diseases in China.

Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.

Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

An atypical form of Bietti crystalline dystrophy.

Predicting the functional impact of protein mutations: application to cancer genomics

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174-179

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scholarly article

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10.1136/BJOPHTHALMOL-2012-302469

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2

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2012-12-06T00:00:00Z

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233880061

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23221965

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3582089

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