Argininosuccinase

Linnebank M et al. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

O'Brien WE et al. (1986) Cloning and sequence analysis of cDNA for human argininosuccinate lyase.

Matuo S et al. (1988) Isolation of cDNA clones of human argininosuccinate lyase and corrected amino acid sequence.

Piatigorsky J et al. (1988) Gene sharing by delta-crystallin and argininosuccinate lyase.

Naylor SL et al. (1978) Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.

Todd S et al. (1989) cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

Erez A et al. (2011) Requirement of argininosuccinate lyase for systemic nitric oxide production.

Abramson RD et al. (1991) Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.

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Walker DC et al. (1990) Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.

Nagamani SC et al. (2012) Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.

Trevisson E et al. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Kleijer WJ et al. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.

Orphanet article

NCBI article

OMIM.ORG article

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