Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities - Wikidata - wikimedia - TriplyDB

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

http://www.wikidata.org/entity/Q29544427

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Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

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Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

http://www.wikidata.org/entity/Q29544427

description

2015 nî lūn-bûn

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2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

name

Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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type

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

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Investigative Ophthalmology & Visual Science

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Choroideremia Is a Systemic Di ...... and RBC Membrane Abnormalities

@en

P2093

Ayesha Khan

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Hojatollah Vali

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

Huanan Ren

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

Irma Lopez-Solache

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

Jacek Majewski

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

Jamie Koenekoop

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

Jeannie Mui

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

Jim Dixon

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Kelly Sears

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Nancy Braverman

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P2860

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Cloning of a gene that is rearranged in patients with choroideraemia

REP-2, a Rab escort protein encoded by the choroideremia-like gene

Lipid biomarkers of lens aging

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients

Functions of plasmalogen lipids in health and disease.

Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium.

Rab GTPase prenylation hierarchy and its potential role in choroideremia disease

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8158

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scholarly article

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10.1167/IOVS.14-15751

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13

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56

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Jeremy Schwartzentruber

Alice Yang Zhang

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2015-12-28T00:00:00Z

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288836372

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26720468

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