An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.

Vuillaumier-Barrot S, Dupré T, Andriantsihoarana T, Desportes V, Cheillan D, Moore SEH, Chantret I

DOI: 10.1186/s13023-025-03535-4
Published: 2025 Feb 21
Container: Orphanet journal of rare diseases
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/s13023-025-03535-4,
  title = {An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.},
  author = {Vuillaumier-Barrot S and Dupré T and Andriantsihoarana T and Desportes V and Cheillan D and Moore SEH and Chantret I},
  year = {2025},
  journal = {Orphanet journal of rare diseases},
  doi = {10.1186/s13023-025-03535-4},
  url = {https://doi.org/10.1186/s13023-025-03535-4}
}

RIS

TY  - JOUR
TI  - An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.
AU  - Vuillaumier-Barrot S
AU  - Dupré T
AU  - Andriantsihoarana T
AU  - Desportes V
AU  - Cheillan D
AU  - Moore SEH
AU  - Chantret I
PY  - 2025
JO  - Orphanet journal of rare diseases
DO  - 10.1186/s13023-025-03535-4
UR  - https://doi.org/10.1186/s13023-025-03535-4
ER  -

APA

S, V., T, D., T, A., V, D., D, C., SEH, M., & I, C. (2025). An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-025-03535-4

Source records

pubmed · retrieved 2026-09-26T06:30:01.518Z