Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.

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P2860

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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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年论文

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2012年论文

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name

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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P1476

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients

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P2093

Almogit Abu-Horowitz

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Dror Sharon

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Elon Pras

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Eran Pras

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Eyal Banin

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Haike Reznik-Wolf

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Rotenstreich Ygal

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Svetlana Raivech

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Yaniv Barkana

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P2860

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene

Macular dystrophy in a Japanese family with fundus albipunctatus

A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots

Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus

Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.

A perfect message: RNA surveillance and nonsense-mediated decay

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.

Delayed dark adaptation in 11-cis-retinol dehydrogenase-deficient mice: a role of RDH11 in visual processes in vivo.

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scholarly article

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Yaniv Barkana

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2012-06-23T00:00:00Z

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Israel

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

about

P2860

P2860

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

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