"Gene, mutation, expression, adenylosuccinate lyase.Fundamental complex study bringing knowledge of the whole gene structure, of its cDNA isoforms and molecular analysis of a representative series of patients with this enzyme deficiency.Biochemical aspects of the enzymopathy are showed worth further investigation which might help in elucidating nature of the particular neuronopathic phenotype." . . . "10" . "Krijt, Jakub" . . . "\u0160ebesta, Ivan" . "Zik\u00E1nov\u00E1, Marie" . "Kmoch, Stanislav" . "5"^^ . "13"^^ . "Hartmannov\u00E1, H." . "GB - Spojen\u00E9 kr\u00E1lovstv\u00ED Velk\u00E9 Brit\u00E1nie a Severn\u00EDho Irska" . . "6"^^ . "Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients." . "Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients."@en . . "RIV/00216208:11110/00:00002221!RIV/2001/GA0/111101/N" . "Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients."@en . "Kmoch, Stanislav" . "11110" . . "712851" . "9" . "\u0160ebesta, Ivan" . "Stib\u016Frkov\u00E1, Blanka" . "[E2281521F798]" . "1501" . "P(GA301/00/0689), P(IZ3608)" . "RIV/00216208:11110/00:00002221" . . . "Krijt, Jakub" . "0964-6906" . . . "Stib\u016Frkov\u00E1, Blanka" . "Gene, mutation, expression, adenylosuccinate lyase.Fundamental complex study bringing knowledge of the whole gene structure, of its cDNA isoforms and molecular analysis of a representative series of patients with this enzyme deficiency.Biochemical aspects of the enzymopathy are showed worth further investigation which might help in elucidating nature of the particular neuronopathic phenotype."@en . "Human Molecular Genetics" . "Zik\u00E1nov\u00E1, Marie" . . "Human adenylosuccinate lyase (ADSL), cloning and characterization of full-lenghth cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients." .