Associated Papers
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
22975760 (PubMed )
Supplement: gim2012114x1.pdf
Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.
Kim IS et al.
Journal of Biochemistry and Molecular Biology, 2006
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ et al.
Human Mutation, 2003
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
Ruitenbeek W et al.
Annals of Clinical Biochemistry, 2003
A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.
Li CM et al.
European Journal of Human Genetics : Ejhg, 2001
The first successful prenatal diagnosis on a Korean family with citrullinemia.
Hong KM et al.
Molecules and Cells, 2000
Mutation analysis of Korean patients with citrullinemia.
Hong KM et al.
Molecules and Cells, 2000
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