-
1
المؤلفون: Ida Annunziata, Marco Sardiello, Andrea Ballabio, Guglielmo Roma
المساهمون: Sardiello, M., Annunziata, I., Roma, G., Ballabio, Andrea
المصدر: Human Molecular Genetics. 14:3203-3217
مصطلحات موضوعية: Sequence analysis, Molecular Sequence Data, Sequence alignment, Biology, Homology (biology), Evolution, Molecular, Multiple sulfatase deficiency, Genetics, medicine, Humans, Oxidoreductases Acting on Sulfur Group Donors, Amino Acid Sequence, Molecular Biology, Peptide sequence, Gene, Conserved Sequence, Phylogeny, Genetics (clinical), Binding Sites, Base Sequence, Sulfatase, Computational Biology, Genomics, Sequence Analysis, DNA, General Medicine, medicine.disease, Sulfatase-Modifying Factor 1, Sulfatases, Protein Processing, Post-Translational, Sequence Alignment
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d35daa369f2302df80357ff7c98586Test
https://doi.org/10.1093/hmg/ddi351Test -
2
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