Associated Papers
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.
Ali EZ et al.
Molecular Genetics and Metabolism Reports, 2019
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
25778938 (PubMed )
Supplement: supplement_1.doc
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M et al.
Human Genetics, 2002
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ et al.
Journal of Inherited Metabolic Disease, 2002
Intragenic complementation and the structure and function of argininosuccinate lyase.
Yu B et al.
Cellular and Molecular Life Sciences : Cmls, 2000
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Linnebank M et al.
Journal of Inherited Metabolic Disease, 2000
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene.
Barbosa P et al.
The Journal of Biological Chemistry, 1991
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