Citations for
1ASL
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L.
J Biol Chem 284(42):28926-34. Epub 2009 Aug 24.PMID: 19703900 2009
2ASL
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Ficicioglu C, Mandell R, Shih VE.
Mol Genet Metab 98(3):273-7. Epub 2009 Jun 25.PMID: 19635676 2009
3ASL,ASLP1,ASLP2
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB.
Hum Mutat 28(7):694-702. 2007
4ASL
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG.
Hum Genet 111(4-5):350-9. 2002
5ASL
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.
Tanaka T, Nagao M, Mori T, Tsutsumi H.
Tohoku J Exp Med 198(2):119-24. 2002
6ASL
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R.
Sampaleanu LM, Vallee F, Thompson GD, Howell PL.
Biochemistry 40(51):15570-80. 2001
7ASL
Human argininosuccinate lyase: a structural basis for intragenic complementation.
Turner MA, Simpson A, McInnes RR, Howell PL.
Proc Natl Acad Sci U S A 94(17):9063-8. 1997
8ASL
Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene.
Barbosa P, et al.
J Biol Chem 266 : 5286-5290. 1991
9ASL
Characterization of the human argininosuccinate lyase gene and analysis of exon skipping.
Abramson RD, et al.
Genomics 10 : 126-132. 1991
10ASL
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
Walker DC, McCloskey DA, Simard LR, McInnes RR.
Proc Natl Acad Sci U S A 87(24):9625-9. 1990
11ASL, ASLL
cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.
Todd S, McGill JR, McCombs JL, Moore CM, Weider I, Naylor SL.
Genomics 4 : 53-59. 1989
12ASL
Human argininosuccinate lyase (ASL) gene is located at 7cen-q11.2.
Todd S, et al.
(HGM9) Cytogenet Cell Genet 46 : 704. 1987
13ASL
Argininosuccinate lyase deficincy : evidence for heterogeneous structural gene mutations by immunoblotting.
Simard L, et al.
Am J Hum Genet 39 : 38-51. 1986
14OTC, CPS1, ARG1, ASL, CTLN1
Mammalian urea cycle enzymes.
Jackson MJ, et al.
Annu Rev Genet 20 : 431-464. 1986
15ASL, ASLL
Cloning and sequence analysis of cDNA for human argininosuccinate lyase.
O'Brien WE, et al.
Proc Natl Acad Sci U S A 83 : 7211-7215. 1986
16ASL
Regional assignment of DIA2, GUSB and ASL on chromosome 7.
Baeteman MA, et al.
(HGM7) Cytogenet Cell Genet 37 : 406-407. 1984
17ASL
Argininosuccinic aciduria : assignment of the argininosuccinate lyase gene to the pter-q22 region of human chromosome 7 by autoradiography.
Naylor SL, et al.
Proc Natl Acad Sci U S A 75 : 6159-6162. 1978