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Your search keyword '"Puisac, Beatriz"' showing total 3 results
Start Over Author "Puisac, Beatriz" Journal molecular genetics and metabolism
3 results on '"Puisac, Beatriz"'

1. Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

Author

Puisac, Beatriz, primary, Teresa-Rodrigo, María Esperanza, additional, Arnedo, María, additional, Gil-Rodríguez, María Concepción, additional, Pérez-Cerdá, Celia, additional, Ribes, Antonia, additional, Pié, Ángeles, additional, Bueno, Gloria, additional, Gómez-Puertas, Paulino, additional, and Pié, Juan, additional

Published
2013
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2. Molecular genetics of HMG-CoA lyase deficiency

Author

Pié, Juan, primary, López-Viñas, Eduardo, additional, Puisac, Beatriz, additional, Menao, Sebastián, additional, Pié, Angeles, additional, Casale, Cesar, additional, Ramos, Feliciano J., additional, Hegardt, Fausto G., additional, Gómez-Puertas, Paulino, additional, and Casals, Núria, additional

Published
2007
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3. C-Terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity

Author

Carrasco, Patricia, primary, Menao, Sebastian, additional, López-Viñas, Eduardo, additional, Santpere, Gabriel, additional, Clotet, Josep, additional, Sierra, Adriana Y., additional, Gratacós, Esther, additional, Puisac, Beatriz, additional, Gómez-Puertas, Paulino, additional, Hegardt, Fausto G., additional, Pie, Juan, additional, and Casals, Núria, additional

Published
2007
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