Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.
- DOI
- 10.1016/j.cca.2026.121298
- Published
- 2026 Aug 28
- Container
- Clinica chimica acta; international journal of clinical chemistry
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.cca.2026.121298,
title = {Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.},
author = {Zhao X and Yuan L and Sun Y and Xia H and Hu P and Xu H and Gong L and Deng H},
year = {2026},
journal = {Clinica chimica acta; international journal of clinical chemistry},
doi = {10.1016/j.cca.2026.121298},
url = {https://doi.org/10.1016/j.cca.2026.121298}
}RIS
TY - JOUR TI - Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification. AU - Zhao X AU - Yuan L AU - Sun Y AU - Xia H AU - Hu P AU - Xu H AU - Gong L AU - Deng H PY - 2026 JO - Clinica chimica acta; international journal of clinical chemistry DO - 10.1016/j.cca.2026.121298 UR - https://doi.org/10.1016/j.cca.2026.121298 ER -
APA
X, Z., L, Y., Y, S., H, X., P, H., H, X., L, G., & H, D. (2026). Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.. Clinica chimica acta; international journal of clinical chemistry. https://doi.org/10.1016/j.cca.2026.121298
Source records
- pubmed · retrieved 2026-09-25T19:10:22.966Z