Associated Papers
Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.
Palma-Lara I et al.
International Journal of Molecular Sciences, 2023
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C et al.
Human Mutation, 2017
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Häberle J et al.
Human Genetics, 2002
The 1.6 A crystal structure of E. coli argininosuccinate synthetase suggests a conformational change during catalysis.
Lemke CT et al.
Structure (london, England : 1993), 2001
Mutations and DNA diagnoses of classical citrullinemia.
Kakinoki H et al.
Human Mutation, 1997
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Kobayashi K et al.
Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1995
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Kobayashi K et al.
American Journal of Human Genetics, 1994
Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells.
Shaheen N et al.
Enzyme & Protein, 0
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