https://scholars.lib.ntu.edu.tw/handle/123456789/638718
標題: | Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 | 作者: | Li, Anren Jiao, Xiaodong Munier, Francis L Schorderet, Daniel F Yao, Wenliang Iwata, Fumino Hayakawa, Mutsuko Kanai, Atsushi MUH-SHY CHEN Alan Lewis, Richard Heckenlively, John Weleber, Richard G Traboulsi, Elias I Zhang, Qingjiong Xiao, Xueshan Kaiser-Kupfer, Muriel Sergeev, Yuri V Hejtmancik, J Fielding |
公開日期: | 五月-2004 | 卷: | 74 | 期: | 5 | 來源出版物: | American journal of human genetics | 摘要: | Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested. The CYP4V2 gene, transcribed from 11 exons spanning 19 kb, is expressed widely. Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/638718 | ISSN: | 0002-9297 | DOI: | 10.1086/383228 |
顯示於: | 醫學系 |
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