Publications by authors named "Angeles Pié"

7Publications

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.

Mol Genet Metab 2013 Apr 4;108(4):232-40. Epub 2013 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.019DOI Listing
April 2013

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.

Mol Biol Rep 2012 Apr 28;39(4):4777-85. Epub 2011 Sep 28.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, 50009, Zaragoza, Spain.

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http://dx.doi.org/10.1007/s11033-011-1270-8DOI Listing
April 2012

Molecular genetics of HMG-CoA lyase deficiency.

Mol Genet Metab 2007 Nov 9;92(3):198-209. Epub 2007 Aug 9.

Laboratory of Clinical Genetics and Functional Genomics, University of Zaragoza Medical School, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.020DOI Listing
November 2007

Is mortalin a candidate gene for T1DM ?

Autoimmunity 2004 Sep-Nov;37(6-7):423-30

Steno Diabetes Center, Niels Steensens Vej, Gentofte, Denmark.

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http://dx.doi.org/10.1080/08916930410001710037DOI Listing
May 2005