Differential pattern of RP1 mutations in retinitis pigmentosa
Publication in refereed journal
香港中文大學研究人員
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摘要Purpose: Retinitis pigmentosa 1 (RP1) is a major gene responsible for both autosomal dominant and autosomal recessive retinitis pigmentosa (RP). We have previously identified three disease-causing mutations out of 174 RP patients. In this study, we investigated a new cohort of Chinese RP patients to further evaluate the contribution of RP1 mutations to cause RP.
著者Zhang X, Chen LJ, Law JP, Lai TYY, Chiang SWY, Tam POS, Chu KY, Wang NL, Zhang MZ, Pang CP
期刊名稱Molecular Vision
出版年份2010
月份7
日期15
卷號16
期次145-50
出版社MOLECULAR VISION
頁次1353 - 1360
國際標準期刊號1090-0535
語言英式英語
Web of Science 學科類別Biochemistry & Molecular Biology; BIOCHEMISTRY & MOLECULAR BIOLOGY; Ophthalmology; OPHTHALMOLOGY
