المؤلفون: Marie-Françoise Vincent, Sandrine Marie, Georges Van den Berghe, V. Race

المصدر: Human molecular genetics. 9(14)

مصطلحات موضوعية: Time Factors, Genotype, Recombinant Fusion Proteins, Mutation, Missense, Biology, medicine.disease_cause, chemistry.chemical_compound, Intellectual Disability, Genetics, medicine, Humans, Thermolabile, Adenylosuccinate lyase, Purine metabolism, Molecular Biology, Genetics (clinical), Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Mutation, Homozygote, Adenylosuccinate Lyase, Temperature, General Medicine, Riboside, Fibroblasts, medicine.disease, Aminoimidazole Carboxamide, Adenosine Monophosphate, Recombinant Proteins, Kinetics, Enzyme, chemistry, Biochemistry, Adenylosuccinate, Chromatography, Gel, Electrophoresis, Polyacrylamide Gel, Ribonucleosides, 5' Untranslated Regions, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe022861dcccca9f1513352e0071971Test
https://pubmed.ncbi.nlm.nih.gov/10958654Test

المؤلفون: Marie-Françoise Vincent, F Van den Bergh, Jacques Jaeken, G Van den Berghe

المصدر: Journal of inherited metabolic disease. 16(2)

مصطلحات موضوعية: Purine, Adenosine monophosphate, medicine.medical_specialty, Binding, Competitive, Potassium Chloride, Substrate Specificity, chemistry.chemical_compound, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Nucleotide, Fibroblast, Adenylosuccinate lyase, Child, Genetics (clinical), Cells, Cultured, Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Nucleotides, organic chemicals, Adenylosuccinate Lyase, Fibroblasts, Hydrogen-Ion Concentration, Ribonucleotides, medicine.disease, Aminoimidazole Carboxamide, Chromatography, Ion Exchange, Adenosine Monophosphate, Kinetics, medicine.anatomical_structure, Endocrinology, chemistry, Adenylosuccinate, bacteria, Female, Nucleoside

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49157f6cc659af224cb085ad3371ffdaTest
https://pubmed.ncbi.nlm.nih.gov/8412002Test