Kmoch, S <br/><br/>
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.  [electronic resource] 

 -  Human molecular genetics  Jun 2000 
 - 1501-13 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0964-6906 
<br/><br/><label>Standard No.: </label>10.1093/hmg/9.10.1501  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenylosuccinate Lyase--biosynthesis<br/>Alternative Splicing<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Cloning, Molecular<br/>DNA, Complementary--metabolism<br/>Escherichia coli--metabolism<br/>Exons<br/>Female<br/>Fibroblasts--metabolism<br/>Genotype<br/>Humans<br/>Infant<br/>Kinetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>Promoter Regions, Genetic<br/>Protein Isoforms<br/>Sequence Analysis, DNA<br/>Temperature<br/>Tissue Distribution