Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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Relative frequency of inherited retinal dystrophies in Brazil

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Q58107199-BAEAD130-AD4D-46EA-AC32-F483C5D6C298

P2860

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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http://www.wikidata.org/entity/Q38558467

description

2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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P1476

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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P2093

Irma Lopez Solache

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

Razek Georges Coussa

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

Robert K Koenekoop

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

P2860

Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression

Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.

Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

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7-15

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scholarly article

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10.1080/13816810.2016.1275021

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

P478

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2017-01-17T00:00:00Z

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28095138

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birth defect

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5607866

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Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

about

P2860

P2860

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

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P2093

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P2093

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P698

P921

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