A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

Bobby G. Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J. Bamshad, Marie-Christine Vergnes-Boiteux, Sophie Cholet, Stephen Dalton, Anne Dell, Thierry Dupré, Mathieu Fiore, Stuart M. Haslam, Yohann Huguenin, Tadahiro Kumagai, Michael Kulik, Katherine McGoogan, Caroline Michot, Deborah A. Nickerson, Tiffany Pascreau, Delphine Borgel, Kimiyo Raymond, Deepti Warad, Heather Flanagan-Steet, Richard Steet, Michael Tiemeyer, Nathalie Seta, Arnaud Bruneel, Hudson H. Freeze

Open source

DOI: 10.1016/j.ajhg.2021.04.013
Published: 2021-06
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2021.04.013,
  title = {A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction},
  author = {Bobby G. Ng and Paulina Sosicka and François Fenaille and Annie Harroche and Sandrine Vuillaumier-Barrot and Mindy Porterfield and Zhi-Jie Xia and Shannon Wagner and Michael J. Bamshad and Marie-Christine Vergnes-Boiteux and Sophie Cholet and Stephen Dalton and Anne Dell and Thierry Dupré and Mathieu Fiore and Stuart M. Haslam and Yohann Huguenin and Tadahiro Kumagai and Michael Kulik and Katherine McGoogan and Caroline Michot and Deborah A. Nickerson and Tiffany Pascreau and Delphine Borgel and Kimiyo Raymond and Deepti Warad and Heather Flanagan-Steet and Richard Steet and Michael Tiemeyer and Nathalie Seta and Arnaud Bruneel and Hudson H. Freeze},
  year = {2021},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2021.04.013},
  url = {https://doi.org/10.1016/j.ajhg.2021.04.013}
}

RIS

TY  - JOUR
TI  - A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
AU  - Bobby G. Ng
AU  - Paulina Sosicka
AU  - François Fenaille
AU  - Annie Harroche
AU  - Sandrine Vuillaumier-Barrot
AU  - Mindy Porterfield
AU  - Zhi-Jie Xia
AU  - Shannon Wagner
AU  - Michael J. Bamshad
AU  - Marie-Christine Vergnes-Boiteux
AU  - Sophie Cholet
AU  - Stephen Dalton
AU  - Anne Dell
AU  - Thierry Dupré
AU  - Mathieu Fiore
AU  - Stuart M. Haslam
AU  - Yohann Huguenin
AU  - Tadahiro Kumagai
AU  - Michael Kulik
AU  - Katherine McGoogan
AU  - Caroline Michot
AU  - Deborah A. Nickerson
AU  - Tiffany Pascreau
AU  - Delphine Borgel
AU  - Kimiyo Raymond
AU  - Deepti Warad
AU  - Heather Flanagan-Steet
AU  - Richard Steet
AU  - Michael Tiemeyer
AU  - Nathalie Seta
AU  - Arnaud Bruneel
AU  - Hudson H. Freeze
PY  - 2021
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2021.04.013
UR  - https://doi.org/10.1016/j.ajhg.2021.04.013
ER  -

APA

Ng, B. G., Sosicka, P., Fenaille, F., Harroche, A., Vuillaumier-Barrot, S., Porterfield, M., Xia, Z., Wagner, S., Bamshad, M. J., Vergnes-Boiteux, M., Cholet, S., Dalton, S., Dell, A., Dupré, T., Fiore, M., Haslam, S. M., Huguenin, Y., Kumagai, T., Kulik, M., McGoogan, K., Michot, C., Nickerson, D. A., Pascreau, T., Borgel, D., Raymond, K., Warad, D., Flanagan-Steet, H., Steet, R., Tiemeyer, M., Seta, N., Bruneel, A., & Freeze, H. H. (2021). A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.04.013

Source records

crossref · retrieved 2026-09-27T10:16:09.988Z