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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families
BACKGROUND: Previous studies showed that the fibrillin‐1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in Chinese families with MFS. METHODS: Eight families with MFS and related disorder were recruited in this study...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomic Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6465674/ https://ncbi.nlm.nih.gov/pubmed/30838813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.594 |
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