儿童四氢生物蝶呤缺乏症患者6-丙酮酰四氢蝶呤合成酶基因突变特点及一种新突变的发现
瞿宇晋, 宋 昉, 金煜炜, 王 红
Mutation Analysis and One Novel Mutation Detection of 6-pyruvoyl Tetrahydropterin Synthase Gene in Children with Tetrahydrobiopterin Deficiency
QU Yu-jin, SONG Fang, JIN Yu-wei, WANG Hong
中国医学科学院学报
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2008, (2): 170
-174
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