CORC  > 中国医学科学院 北京协和医学院
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
Yan, Yousheng; Zhang, Chuan; Jin, Xiaohua; Zhang, Qinhua; Zheng, Lei; Feng, Xuan; Hao, Shengju; Gao, Huafang; Ma, Xu
2019
卷号34期号:3页码:733-745
关键词Phenylketonuria Phenylalanine hydroxylase Sanger sequencing MLPA Gap-PCR Gene variant
ISSN号0885-7490
DOI10.1007/s11011-019-0387-7
URL标识查看原文
收录类别SCIE ; PUBMED
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/6343872
专题中国医学科学院 北京协和医学院
推荐引用方式
GB/T 7714
Yan, Yousheng,Zhang, Chuan,Jin, Xiaohua,et al. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants[J],2019,34(3):733-745.
APA Yan, Yousheng.,Zhang, Chuan.,Jin, Xiaohua.,Zhang, Qinhua.,Zheng, Lei.,...&Ma, Xu.(2019).Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.,34(3),733-745.
MLA Yan, Yousheng,et al."Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants".34.3(2019):733-745.
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