title: Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
abstract: We determined the DNA sequence of the adenylosuccinate lyase (ASL) gene from a 13 year-old female, who showed a reduced ASL enzymatic activity in lymphocytes and red blood cells and suffered from severe psychomotor retardation. The patient was the offspring of a non-consanguineous marriage. She was found to be compound heterozygous for two missense-mutations located on different alleles (C300-G and G1266-T): the first mutation replaces Pro75 by Ala, the second mutation replaces Asp397 by Tyr.
authors.affiliation: Department of Biochemical Sciences, University of Roma La Sapienza, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Verginelli
authors.forename: B
authors.initials: B
authors.lastname: Luckow
authors.forename: C
authors.initials: C
authors.lastname: Crifò
authors.forename: C
authors.initials: C
authors.lastname: Salerno
authors.forename: M
authors.initials: M
authors.lastname: Gross
mesh_terms: D000264:Adenylosuccinate Lyase / Q000235:genetics*; D000328:Adult; D002648:Child; D004789:Enzyme Activation; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011596:Psychomotor Disorders / Q000097:blood / Q000235:genetics*
chemical_list: D000264:Adenylosuccinate Lyase