Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Shi Q, Liu J, Pan J, Ma S, Deng W, Liu Y, Xi H, Zhou S, Linpeng S, Zhu Q, Gu Z, Zeng C, Li M, Xiong Z, Zhu H, Liang D, He J, Wang H, Li Z, Wu L

Open source

DOI
10.1016/j.cca.2026.121294
Published
2026 Aug 22
Container
Clinica chimica acta; international journal of clinical chemistry
Publisher
Not recorded
Open access
no

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BibTeX

@article{allodium:10.1016/j.cca.2026.121294,
  title = {Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.},
  author = {Shi Q and Liu J and Pan J and Ma S and Deng W and Liu Y and Xi H and Zhou S and Linpeng S and Zhu Q and Gu Z and Zeng C and Li M and Xiong Z and Zhu H and Liang D and He J and Wang H and Li Z and Wu L},
  year = {2026},
  journal = {Clinica chimica acta; international journal of clinical chemistry},
  doi = {10.1016/j.cca.2026.121294},
  url = {https://doi.org/10.1016/j.cca.2026.121294}
}

RIS

TY  - JOUR
TI  - Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.
AU  - Shi Q
AU  - Liu J
AU  - Pan J
AU  - Ma S
AU  - Deng W
AU  - Liu Y
AU  - Xi H
AU  - Zhou S
AU  - Linpeng S
AU  - Zhu Q
AU  - Gu Z
AU  - Zeng C
AU  - Li M
AU  - Xiong Z
AU  - Zhu H
AU  - Liang D
AU  - He J
AU  - Wang H
AU  - Li Z
AU  - Wu L
PY  - 2026
JO  - Clinica chimica acta; international journal of clinical chemistry
DO  - 10.1016/j.cca.2026.121294
UR  - https://doi.org/10.1016/j.cca.2026.121294
ER  - 

APA

Q, S., J, L., J, P., S, M., W, D., Y, L., H, X., S, Z., S, L., Q, Z., Z, G., C, Z., M, L., Z, X., H, Z., D, L., J, H., H, W., Z, L., & L, W. (2026). Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.. Clinica chimica acta; international journal of clinical chemistry. https://doi.org/10.1016/j.cca.2026.121294

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