Analysis of aberrant splicing and nonsense-mediated decay...

Molecular Genetics and Metabolism 2013 / 4 Vol. 108; Iss. 4

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

Puisac, Beatriz, Teresa-Rodrigo, María Esperanza, Arnedo, María, Gil-Rodríguez, María Concepción, Pérez-Cerdá, Celia, Ribes, Antonia, Pié, Ángeles, Bueno, Gloria, Gómez-Puertas, Paulino, Pié, Juan
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Volume:
108
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2013.01.019
Date:
April, 2013
File:
PDF, 963 KB
english, 2013
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