Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a non-consanguineous Chinese family
作者单位：Key Laboratory of Molecular Biophysics of Ministry of EducationCollege of Life Science and TechnologyCenter for Human Genome ResearchHuazhong University of Science and TechnologyWuhanChina Department of Molecular CardiologyThe Cleveland Clinic FoundationClevelandOH 44195USA
会议名称：《湖北省遗传学会第八次代表大会暨学术讨论会》
会议日期：2009年
学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学]
摘 要：Objective:To identify the genetic basis of severe autosomal recessive retinitis pigmentosa in a non-consanguineous Chinese family. Methods:Linkage and halpotype analyses were used to identify chromosomal location of the pathogenic gene in the arRP family.Direct DNA sequence analysis was used to