Functional and molecular studies in primary carnitine deficiency
Author:
Affiliation:
1. Division of Medical Genetics/Pediatrics; University of Utah; Salt Lake City Utah
2. ARUP Institute for Clinical and Experimental Pathology; ARUP Laboratories; Salt Lake City Utah
3. Department of Pathology; University of Utah; Salt Lake City Utah
Funder
National Institutes of Health
National Institute of Diabetes and Digestive and Kidney Diseases
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference52 articles.
1. A novel mutation (L363P) in the OCTN2 gene and its effect on secondary protein structure;Akpinar;Clinical Genetics,2010
2. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter;Amat di San Filippo;Journal of Biological Chemistry,2004
3. Pharmacological rescue of carnitine transport in primary carnitine deficiency;Amat di San Filippo;Human Mutation,2006
4. Cardiomyopathy and carnitine deficiency;Amat di San Filippo;Molecular Genetics and Metabolism,2008
5. Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency;Amat di San Filippo;Journal of Biological Chemistry,2003
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