- Romero-Cortadellas, L., Ferrer-Cortès, X., Calvo-López, L., Olivella, M., Barqué, A., Diaz-de-Heredia, C., Moser, K., Kleine Budde, I., & Sanchez, M. (2024). Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics. British Journal of Haematology. https://doi.org/10.1111/bjh.19675 (En premsa)
Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics
on 28 d'octubre de 2024
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