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Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.
Clin Chim Acta. 2017 Nov;474:54-59. doi: 10.1016/j.cca.2017.08.023. Epub 2017 Aug 24.
Clin Chim Acta. 2017.
PMID: 28842177
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J, Lu C, Wu W, Liu Y, Wang R, Si N, Meng X, Zhang S, Zhang X.
Li J, et al.
Sci China Life Sci. 2019 Dec;62(12):1630-1637. doi: 10.1007/s11427-018-9491-8. Epub 2019 May 15.
Sci China Life Sci. 2019.
PMID: 31098894
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