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Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing
Objective: The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome (MFS) or incomplete MFS phenotypes. Methods: Three unrelated patients with a definite or suspected clinical diagnosis of MFS and their family members were re...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Compuscript
2020-09-01
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| Schriftenreihe: | Cardiovascular Innovations and Applications |
| Schlagworte: | |
| Online Zugang: | https://www.ingentaconnect.com/content/cscript/cvia/2020/00000005/00000001/art00003 |
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