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5. A Novel Single-Base Deletional Mutation in Major Intrinsic Protein(MIP)in Autosomal Dominant Catarac

A Novel Single-Base Deletional Mutation in Major Intrinsic Protein(MIP)in Autosomal Dominant Catarac

来源 :第八届中国眼科学和视觉科学研究大会 | 被引量 : 0次 | 上传用户：lanangel1234

【摘 要】

：

Purpose To identify the underlying genetic defect and the molecular phenotype in a Chinese family affected with autosomal dominant congenital punctate cataract.Methods Detailed clinical and ophthalmol

【作 者】

：

Yu Yinhui Wu Menghan Yao Ke 

【机 构】

：

Eye Center,Second Affiliated Hospital of Zhejiang University School of Medicine,No.88 Jiefang Rd,Han

【出 处】

：

第八届中国眼科学和视觉科学研究大会

【发表日期】

：

2016年5期

【关键词】

：

MIP gene Mutation cataract 

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　　Purpose To identify the underlying genetic defect and the molecular phenotype in a Chinese family affected with autosomal dominant congenital punctate cataract.Methods Detailed clinical and ophthalmological examinations were performed on the affected and unaffected family members in this pedigree.

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