Genetic basis of adenylosuccinase deficiency in an Italian patient.
Verginelli
D
D
Purine Research Laboratory, Medical Polyclinic, University of München.
Luckow
B
B
Salerno
C
C
Gross
M
M
D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000235:genetics*; D002478:Cells, Cultured; D003062:Codon; D017931:DNA Primers; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007558:Italy; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics
D003062:Codon; D017931:DNA Primers; D000264:Adenylosuccinate Lyase