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Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina

The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy, retinitis pigmentosa, retinitis punctata albes...

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主要な著者: Domino K Schlegel, Srinivasagan Ramkumar, Johannes von Lintig, Stephan CF Neuhauss
フォーマット: Artigo
言語:Inglês
出版事項: eLife Sciences Publications Ltd 2021-10-01
シリーズ:eLife
主題:
オンライン・アクセス:https://elifesciences.org/articles/71473
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