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[Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease].
Biomedica. 2018 May 1;38(0):30-42. doi: 10.7705/biomedica.v38i0.3454.
Biomedica. 2018.
PMID: 29809327
Free article.
Spanish.
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, Baquero C, Hernández-Marcos M, de Karam JC, Ciero M, Santos-Simarro F, Lapunzina P, Wierzba J, Casale CH, Ramos FJ, Gillessen-Kaesbach G, Kaiser FJ, Pié J.
Teresa-Rodrigo ME, et al. Among authors: baquero c.
Int J Mol Sci. 2014 Jun 10;15(6):10350-64. doi: 10.3390/ijms150610350.
Int J Mol Sci. 2014.
PMID: 24918291
Free PMC article.
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