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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
DOI10.1007/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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