Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Deficiency of argininosuccinate lyase (ASL) causes argininosuccinic aciduria, an urea cycle defect that may present with a severe neonatal onset form or with a late onset phenotype. To date phenotype-genotype correlations are still not clear because biochemical assays of ASL activity correlate poorl...

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Main Authors: Trevisson, Eva, Burlina, Alberto, Doimo, Mara, Pertegato, Vanessa, Casarin, Alberto, Cesaro, Luca, Navas, Placido, Basso, Giuseppe, Sartori, Geppo, Salviati, Leonardo
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2009
Teme:
Metabolism and Bioenergetics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781438/
https://ncbi.nlm.nih.gov/pubmed/19703900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.050195
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