Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

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In vivo versus ex vivo CRISPR therapies for retinal dystrophy.Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

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P2860

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

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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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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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P1476

Genetic Analysis of the Rhodop ...... ation in a Healthy Individual.

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Anat Blumenfeld

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Avigail Beryozkin

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Dror Sharon

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Eyal Banin

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Gal Levy

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Libe Gradstein

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Prasanthi Namburi

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Segev Meyer

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Yair Morad

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P2860

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

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

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

Retinitis pigmentosa

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families

A study of retinitis pigmentosa in the City of Birmingham. I Prevalence

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

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940-947

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scholarly article

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10.1167/IOVS.15-18702

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English

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Anand Swaroop

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2016-03-01T00:00:00Z

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26962691

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

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P2860

P2860

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

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