| Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients | |
| Li, Nana; Yu, Ping; Rao, Bin; Deng, Ying; Guo, Yixiong; Huang, Yushan; Ding, Lijie; Zhu, Jun; Yang, Huanming; Wang, Jian | |
| 刊名 | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
 |
| 2018 | |
| 卷号 | Vol.31 No.8页码:911-916 |
| 关键词 | mutation 6-pyruvoyltetrahydropterin synthase quinoid dihydropteridine reductase tetrahydrobiopterin deficiencies |
| ISSN号 | 0334-018X |
| URL标识 | 查看原文 |
| 内容类型 | 期刊论文 |
| URI标识 | http://www.corc.org.cn/handle/1471x/1869565 |
| 专题 | 四川大学 |
| 作者单位 | 1.Watson Inst Genome Sci, Hangzhou, Zhejiang, Peoples R China 2.BGI Shenzhen, China Natl GeneBank, Shenzhen, Guangdong, Peoples R China 3.James 4.Sichuan Univ, West China Second Univ Hosp, Natl Ctr Birth Defects Monitoring, 20,Sect 3,Ren Min South Rd, Chengdu, Sichuan, Peoples R China 5.BGI Shenzhen, Shenzhen, Peoples R China 6.Sichuan Univ, Minist Educ, Key Lab Birth Defects & Related Dis Women & Child, Chengdu, Sichuan, Peoples R China 7.BGI Shenzhen, Beishan Ind Zone, Bldg 11, Shenzhen, Guangdong, Peoples R China |
| 推荐引用方式 GB/T 7714 | Li, Nana,Yu, Ping,Rao, Bin,et al. Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients[J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,2018,Vol.31 No.8:911-916. |
| APA | Li, Nana.,Yu, Ping.,Rao, Bin.,Deng, Ying.,Guo, Yixiong.,...&Wang, Jian.(2018).Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM,Vol.31 No.8,911-916. |
| MLA | Li, Nana,et al."Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients".JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Vol.31 No.8(2018):911-916. |
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