Associated Papers
A different perspective into clinical symptoms in CPT I deficiency.
Balci MC et al.
Molecular Genetics and Metabolism Reports, 2024
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2008
Structure and function of carnitine acyltransferases.
Jogl G et al.
Annals of the New York Academy of Sciences, 2004
Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.
Morillas M et al.
The Biochemical Journal, 2004
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
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