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-Reference-Cited by-同舟云学术

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

Published:2013-04 Issue:4 Volume:108 Page:232-240
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

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

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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5. Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase;Casals;J. Biol. Chem.,2003

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