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 |
DOI | 10.1007/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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