Expanding mutation spectrum in CPT II gene: identification of four novel mutations
Authors:
- 9 March 2013
- journal article
- letter
- Published by Springer Nature in Journal of Neurology
- Vol. 260 (5) , 1412-1414
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiencyWiener klinische Wochenschrift, 2012
- Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiencyClinical Genetics, 2011
- Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiencyNeurological Research, 2011
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiencyMolecular Genetics and Metabolism, 2006
- Muscle Carnitine Palmitoyltransferase II DeficiencyArchives of Neurology, 2005
- A Novel Nonsense Mutation (515del4) in Muscle Carnitine Palmitoyltransferase II DeficiencyMolecular Genetics and Metabolism, 2002
- dbSNP: the NCBI database of genetic variationNucleic Acids Research, 2001
- Carnitine Palmitoyltransferase DeficienciesMolecular Genetics and Metabolism, 1999
- Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscleEuropean Journal of Biochemistry, 1985