Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. | |
Tian Wo-Tu; Luan Xing-Hua; Zhou Hai-Yan; Zhang Chao; Huang Xiao-Jun; Liu Xiao-Li; Chen Sheng-Di; Tang Hui-Dong; Cao Li | |
刊名 | Neuromuscular disorders : NMD |
2019 | |
卷号 | 29期号:4 |
关键词 | Congenital disorder of glycosylation Glycogen storage disease PGM1 Whole exome sequencing |
URL标识 | 查看原文 |
语种 | 英语 |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/4265353 |
专题 | 上海健康医学院 |
推荐引用方式 GB/T 7714 | Tian Wo-Tu,Luan Xing-Hua,Zhou Hai-Yan,et al. Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.[J]. Neuromuscular disorders : NMD,2019,29(4). |
APA | Tian Wo-Tu.,Luan Xing-Hua.,Zhou Hai-Yan.,Zhang Chao.,Huang Xiao-Jun.,...&Cao Li.(2019).Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review..Neuromuscular disorders : NMD,29(4). |
MLA | Tian Wo-Tu,et al."Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.".Neuromuscular disorders : NMD 29.4(2019). |
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