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Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
Méndez M, Moreno-Carralero MI, Peri VL, Camacho-Galán R, Bosch-Benítez JM, Huerta-Aragonés J, Sánchez-Calero-Guilarte J, Moreno-Risco MB, Alonso-Domínguez JM, Morán-Jiménez MJ. Méndez M, et al. Among authors: sanchez calero guilarte j. Ann Hematol. 2021 Feb;100(2):353-364. doi: 10.1007/s00277-020-04319-5. Epub 2020 Nov 7. Ann Hematol. 2021. PMID: 33159567
Missense variants in ALAS2 gene in five patients.
Moreno-Carralero MI, Arrizabalaga-Amuchastegui B, Sánchez-Calero-Guilarte J, Morado-Arias M, Velasco-Valdazo AE, de-la-Iglesia-Iñigo S, Méndez M, Morán-Jiménez MJ. Moreno-Carralero MI, et al. Among authors: sanchez calero guilarte j. Int J Lab Hematol. 2019 Feb;41(1):e5-e9. doi: 10.1111/ijlh.12902. Epub 2018 Jul 17. Int J Lab Hematol. 2019. PMID: 30019527 No abstract available.
[Spur cell anemia].
Sánchez-Redondo J, Moreno Cuerda V, Cepeda González C, Sánchez Calero-Guilarte J. Sánchez-Redondo J, et al. Among authors: sanchez calero guilarte j. Rev Clin Esp (Barc). 2016 May;216(4):233. doi: 10.1016/j.rce.2015.09.013. Epub 2015 Dec 5. Rev Clin Esp (Barc). 2016. PMID: 26670859 Spanish. No abstract available.