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المؤلفون: Andrea Ballabio, Graciana Diez-Roux
المساهمون: DIEZ ROUX, G., Ballabio, Andrea
المصدر: Annual Review of Genomics and Human Genetics. 6:355-379
مصطلحات موضوعية: Molecular Sequence Data, Biology, medicine.disease_cause, Evolution, Molecular, Multiple sulfatase deficiency, Genetics, medicine, Animals, Humans, Gene family, Oxidoreductases Acting on Sulfur Group Donors, Amino Acid Sequence, Molecular Biology, Peptide sequence, Phylogeny, Genetics (clinical), chemistry.chemical_classification, Mutation, Molecular Structure, Sequence Homology, Amino Acid, Sulfatase, medicine.disease, Disease Models, Animal, Enzyme, Biochemistry, chemistry, Sulfatase-Modifying Factor 1, Formylglycine-generating enzyme, Sulfatases, Lysosomes, Protein Processing, Post-Translational, Metabolism, Inborn Errors
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a890a3afb56663c51c6e7e216098703Test
https://doi.org/10.1146/annurev.genom.6.080604.162334Test -
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المؤلفون: Allison C. Crawley, Alessia Lombardi, Leanne Sutherland, Alberto Auricchio, Adeline A. Lau, John J. Hopwood, Kim M. Hemsley, Alessandro Fraldi, Andrea Ballabio
المساهمون: Fraldi, Alessandro, K., Hemsley, A., Crawley, A., Lombardi, A., Lau, L., Sutherland, Auricchio, Alberto, Ballabio, Andrea, Hopwood, J. J.
المصدر: Human molecular genetics. 16(22)
مصطلحات موضوعية: Male, Heterozygote, Spectrometry, Mass, Electrospray Ionization, Hydrolases, Genetic enhancement, Central nervous system, Biology, Lesion, chemistry.chemical_compound, Lateral ventricles, Mice, Mucopolysaccharidosis III, Genetics, medicine, Animals, Humans, Oxidoreductases Acting on Sulfur Group Donors, Molecular Biology, Mucopolysaccharidosis Type IIIA, Genetics (clinical), Cells, Cultured, Sanfilippo syndrome, Mice, Knockout, Behavior, Animal, Homozygote, Brain, General Medicine, Heparan sulfate, Genetic Therapy, Dependovirus, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, chemistry, Animals, Newborn, Sulfatase-Modifying Factor 1, Immunology, Cancer research, medicine.symptom, Sulfatases, Lysosomes
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5d05812ba1dd76133bc205d67a676aTest
https://pubmed.ncbi.nlm.nih.gov/17725987Test -
3
المصدر: Human mutation. 28(9)
مصطلحات موضوعية: Multiple Sulfatase Deficiency Disease, Mutant, Biology, Transfection, Gene Expression Regulation, Enzymologic, Mice, Multiple sulfatase deficiency, Genetics, medicine, SUMF1 Gene, Animals, Humans, Oxidoreductases Acting on Sulfur Group Donors, Tissue Distribution, Gene, Genetics (clinical), Cells, Cultured, Regulation of gene expression, Mice, Knockout, Sulfatase, medicine.disease, Embryo, Mammalian, Molecular biology, Biochemistry, Codon, Nonsense, Sulfatase-Modifying Factor 1, Formylglycine-generating enzyme, Sulfatases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a1cc3f7419f1e524d77e8585698fc6Test
https://pubmed.ncbi.nlm.nih.gov/17657823Test