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[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].

Authors
Type
Published Article
Journal
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Publication Date
Volume
23
Issue
6
Pages
680–682
Identifiers
PMID: 17160954
Source
Medline

Abstract

(1) The PCR-RFLP analysis formed by ACRS would be a good way for detecting the three prevalent PTPS gene mutations in Chinese patients with PTPSD. (2)The PTPS gene analysis is very important for all patients with hyperphenylalaninemia, which would be useful for early clinical diagnosis and correct treatment of BH4D patients.

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