The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.
作者信息
Thomas A W, Morgan R, Sweeney M, Rees A, Alcolado J
机构信息
Department of Medicine, University of Wales College of Medicine, Health Park, Cardiff, UK.
出版信息
Hum Genet. 1994 Dec;94(6):621-3. doi: 10.1007/BF00206954.
PMID:7989037
Abstract
A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.
摘要
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