Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing

Jinjie Li, Quanzeng Zhang, Lin Zhu, Yanjun Diao, Liu Yang, Jiayun Liu

Open source

DOI
10.1186/s12920-026-02421-7
Published
2026-07-27
Container
BMC Medical Genomics
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s12920-026-02421-7,
  title = {Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing},
  author = {Jinjie Li and Quanzeng Zhang and Lin Zhu and Yanjun Diao and Liu Yang and Jiayun Liu},
  year = {2026},
  journal = {BMC Medical Genomics},
  doi = {10.1186/s12920-026-02421-7},
  url = {https://doi.org/10.1186/s12920-026-02421-7}
}

RIS

TY  - JOUR
TI  - Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing
AU  - Jinjie Li
AU  - Quanzeng Zhang
AU  - Lin Zhu
AU  - Yanjun Diao
AU  - Liu Yang
AU  - Jiayun Liu
PY  - 2026
JO  - BMC Medical Genomics
DO  - 10.1186/s12920-026-02421-7
UR  - https://doi.org/10.1186/s12920-026-02421-7
ER  - 

APA

Li, J., Zhang, Q., Zhu, L., Diao, Y., Yang, L., & Liu, J. (2026). Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing. BMC Medical Genomics. https://doi.org/10.1186/s12920-026-02421-7

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