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
Acta Academiae Medicinae Sinicae ›› 2008, Vol. 30 ›› Issue (2) : 170-174.
Mutation Analysis and One Novel Mutation Detection of 6-pyruvoyl Tetrahydropterin Synthase Gene in Children with Tetrahydrobiopterin Deficiency
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