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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency: 《World Journal of Pediatrics》2014年第3期219-226,共8页De-Yun Lu Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Jian-De Zhou Pei-Zhong Bao Ya-Fen Zhang Xue-Fan Gu; supported by grants from the Major Program of Shanghai Committee on Science and Technology(11dz1950300);the National Key Technology R&D Program(2012BAI09B04).; Background:This study aimed to investigate the mutation spectrum of the QDPR gene,to determine the effect of mutations on dihydropteridine reductase(DHPR)structure/function,to discuss the potential genotype-phenotype ...; 关键词：dihydropteridine reductase HYPERPHENYLALANINAEMIA TETRAHYDROBIOPTERIN

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