SCREENING FOR MUTATIONS IN A NOVEL RETINA-SPECIFIC GENE AMONG CHINESE PATIENTS WITH RETINITIS PIGMEN

• 作 者: 张晓莉 彭智培 等
• 机 构: CenterofMolecularDiagnosisandGeneTherap,DepartmentofOphthalmologyandVisualSciences
• 出 处: 中国医学科学杂志：英文版
• 发表日期: 2002年4期
• 关键词: 色素性视网膜炎 中国患者 视网膜特异性基因突变 RP1基因 筛选 retinitis pigmentosa RP1 gene gene mutation

Objective.To identify and evaluate mutations in the RP1 gene among Chinese patients with retinitis pigmentosa(RP).Methods.Leukocyte DNA of 92 RP patients were collected in Hong Kong.Sequence changes of the entire coding region of the RP1 gene were examine