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

Human Molecular Genetics

Volumn 9, Issue 10, 2000, Pages 1501-1513

  Kmoch, Stanislav ^a   Hartmannová, Hana ^a   Stibůrková, Blanka ^a   Krijt, Jakub ^a   Zikánová, Marie ^a   Šebesta, Ivan ^a,b  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE; COMPLEMENTARY DNA; MUTANT PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; CEREBROSPINAL FLUID; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ESCHERICHIA COLI; EXON; GENE MUTATION; GENE STRUCTURE; HOUSEKEEPING GENE; HUMAN; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION;

ESCHERICHIA COLI;

EID: 0034640869     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.10.1501     Document Type: Article

References (35)

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