Three FBN1 pathogenic variants in Chinese patients with Marf…
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- DOI 10.1016/j.cca.2026.121298
- PMID https://pubmed.ncbi.nlm.nih.gov/42665117
- OpenAlex ID W7204530475
- Type Article
- Language EN
- Published 28 Aug 2026
- Volume 594
- Pages 121298
- Source Clinica Chimica Acta
- Publisher Elsevier BV
- Countries 1
- Institutions 4
- Added 29 Aug 2026
- Updated 12 Oct 2026
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Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification
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1 SDGsAuthors & Affiliations
8 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Xing Zhao | Central South University (CN) Third Xiangya Hospital (CN) | — |
| 2 | Lamei Yuan | Central South University (CN) Third Xiangya Hospital (CN) | |
| 3 | Yan Sun | Urumqi General Hospital of PLA (CN) | — |
| 4 | Hong Xia | Central South University (CN) Third Xiangya Hospital (CN) +1 | |
| 5 | Pengzhi Hu | Central South University (CN) Third Xiangya Hospital (CN) +1 | |
| 6 | Hongbo Xu | Central South University (CN) Third Xiangya Hospital (CN) +1 | |
| 7 | Lina Gong | Central South University (CN) Third Xiangya Hospital (CN) | |
| 8 | Hao Deng Corresponding | Central South University (CN) Third Xiangya Hospital (CN) |
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