Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects.

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作者： Sehyun,Kim ^[1] ; Amy,Stockwell ^[2] ; Han,Qin ^[1] ; Simon S,Gao ^[3] ; Meredith,Sagolla ^[4] ; Ivaylo,Stoilov ^[5] ; Arthur,Wuster ^[2] ; Phillip,Lai ^[6] ; Brian L,Yaspan ^[2] ; Marion,Jeanne ^[1]

作者单位： Department of Neuroscience, Genentech Inc., South San Francisco, California, United States of America. ^[1] Department of Human Genetics, Genentech Inc., South San Francisco, California, United States of America. ^[2] Department of Clinical Imaging, Genentech Inc., South San Francisco, California, United States of America. ^[3] Department of Research Pathology, Genentech Inc., South San Francisco, California, United States of America. ^[4] Medical Affairs Ophthalmology, Genentech Inc., South San Francisco, California, United States of America. ^[5] Early Clinical Development, Genentech Inc., South San Francisco, California, United States of America. ^[6]

主题词人类(Humans);血管生成抑制剂(Angiogenesis Inhibitors);血管内皮生长因子A(Vascular Endothelial Growth Factor A);视力, 低(Vision, Low);视敏度(Visual Acuity);湿性黄斑变性(Wet Macular Degeneration)

DOI 10.1371/journal.pone.0280484

PMID 37079518

发布时间 2023-04-26

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