Article
[Detection of the mutant phenylalanine hydroxylase gene by dideoxy fingerprinting].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 1998
Ma J, Huang S, Wang M, Li H, Lu X, Luo H
Abstract excerpt
OBJECTIVE: To establish a method with high efficiency in detecting phenylalanine hydroxylase (PHA) gene mutations and hence to rapidly diagnose prenatal fetals with phenylketonuria. METHODS: Dideoxy fingerprinting (ddF) was used. It is a hybrid method of dideoxy sequencing and single strand conformation polymorphism (SSCP); it can effectively detect the presence of mutant genes and would not be limited by the...
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