Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
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38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.
Gan Y et al.
Italian Journal of Pediatrics, 2021
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
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Gobin S et al.
Human Genetics, 2002
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