New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
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Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual FunctionConditional Ablation of Retinol Dehydrogenase 10 in the Retinal Pigmented Epithelium Causes Delayed Dark Adaption in Mice.Retinoids and Retinal Diseases.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.The interaction of selenoprotein F (SELENOF) with retinol dehydrogenase 11 (RDH11) implied a role of SELENOF in vitamin A metabolism.miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@ast
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@en
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@nl
type
label
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@ast
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@en
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@nl
prefLabel
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@ast
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@en
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@nl
P2093
P2860
P50
P356
P1476
New syndrome with retinitis pi ...... n retinol dehydrogenase RDH11.
@en
P2093
Carmen Ayuso
Carolyn Cai
James R Lupski
Kalev Nõupuu
Rando Allikmets
Richard Gibbs
Shalini Jhangiani
Stephen H Tsang
Tharikarn Sujirakul
Vivienne C Greenstein
P2860
P304
P356
10.1093/HMG/DDU291
P577
2014-06-10T00:00:00Z