Associated Papers
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
A cell death assay for assessing the mitochondrial targeting of proteins.
Camara Teixeira D et al.
The Journal of Nutritional Biochemistry, 2018
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Yu F et al.
Plos One, 2015
25807536 (PubMed )
Supplement: pone.0121644.s002.xls › n962_HGMD_Uniprot.GO131
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Doshi BS et al.
American Journal of Blood Research, 2014
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Bennett MJ et al.
Molecular Genetics and Metabolism, 2004
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.
Brown NF et al.
Journal of Lipid Research, 2001
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