A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria | |
Yang, Jing; Wang, Honglian; Yin, Kunlun; Hua, Baolai; Zhu, Tienan; Zhao, Yongqiang; Guo, Shubin; Yu, Xuezhong; Wu, Wei; Zhou, Zhou | |
2015 | |
卷号 | 565期号:2页码:288-290 |
关键词 | Acute intermittent porphyria PBGD (or HMBS) gene Genetic testing |
ISSN号 | 0378-1119 |
DOI | 10.1016/j.gene.2015.04.027 |
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/6662729 |
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 | Yang, Jing,Wang, Honglian,Yin, Kunlun,et al. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria[J],2015,565(2):288-290. |
APA | Yang, Jing.,Wang, Honglian.,Yin, Kunlun.,Hua, Baolai.,Zhu, Tienan.,...&Zhou, Zhou.(2015).A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.,565(2),288-290. |
MLA | Yang, Jing,et al."A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria".565.2(2015):288-290. |
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