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1
المؤلفون: Pascal Kienlen-Campard, Jean-Noël Octave, G Van den Berghe, Sandrine Marie, Emmanuel Hermans, Marie-Françoise Vincent, V. Race
المصدر: Nucleosides, nucleotidesnucleic acids. 23(8-9)
مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Time Factors, Tetrazolium Salts, Biochemistry, chemistry.chemical_compound, Succinylpurines, Genetics, medicine, Animals, Humans, Nucleotide, Rats, Wistar, Cells, Cultured, Adenylosuccinate lyase deficiency, Skin, chemistry.chemical_classification, Neurons, Mechanism (biology), Neurotoxicity, Adenylosuccinate Lyase, General Medicine, Fibroblasts, medicine.disease, Rats, Thiazoles, chemistry, Purines, Adenylosuccinate, Nucleic acid, Molecular Medicine, Calcium
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e7aa1edf52ee595d0be91708b63a33Test
https://pubmed.ncbi.nlm.nih.gov/15571234Test -
2
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