Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease | |
Li Jiacheng; Lu Chaoxia; Wu Wei; Liu Yaping; Wang Rongrong; Si Nuo; Meng Xiaolu; Zhang Shuyang; Zhang Xue | |
2019 | |
关键词 | FBN1 mutation Marfan syndrome genotype-phenotype correlations next-generation sequencing |
ISSN号 | 1869-1889 |
DOI | 10.1007/s11427-018-9491-8 |
URL标识 | 查看原文 |
收录类别 | PUBMED |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/6340564 |
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 | Li Jiacheng,Lu Chaoxia,Wu Wei,et al. Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease[J],2019. |
APA | Li Jiacheng.,Lu Chaoxia.,Wu Wei.,Liu Yaping.,Wang Rongrong.,...&Zhang Xue.(2019).Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.. |
MLA | Li Jiacheng,et al."Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease".(2019). |
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