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Inherited Human BCL10 Deficiencies.
Alsaidalani AA, García-Solís B, Bukhari E, Van Den Rym A, López-Collazo E, Sánchez-Ramón S, Corvillo F, López-Lera A, de Andrés A, Martínez-Barricarte R, Perez de Diego R. Alsaidalani AA, et al. J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z. J Clin Immunol. 2023. PMID: 38129623 Free PMC article. Review.
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X, Betti MJ, Kars ME, Patterson AR, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon ER, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. J Clin Immunol. 2024. PMID: 39630167 Free PMC article.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti M, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick O, Gamazon E, Rathmell J, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Res Sq [Preprint]. 2024 Jul 11:rs.3.rs-4595246. doi: 10.21203/rs.3.rs-4595246/v1. Res Sq. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0 PMID: 39041036 Free PMC article. Updated. Preprint.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti MJ, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon E, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. medRxiv [Preprint]. 2024 May 14:2024.05.13.24307299. doi: 10.1101/2024.05.13.24307299. medRxiv. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0 PMID: 38798393 Free PMC article. Updated. Preprint.