Associated Papers
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.
Burrage LC et al.
Jci Insight, 2020
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
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
Sampaleanu LM et al.
Biochemistry, 2001
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus.
Yu B et al.
Biochemistry, 2001
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
Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.
Howell PL et al.
Journal of Inherited Metabolic Disease, 1998
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.
Walker DC et al.
The Journal of Biological Chemistry, 1997
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