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low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1995", "authors": "Maruyama T, Miyake Y, Tajima S, Harada-Shiba M, Yamamura T, Tsushima M, Kishino B, Horiguchi Y, Funahashi T, Matsuzawa Y, et al.", "reference": { "type": "PubMed", "id": "7583548", "url": "https://pubmed.ncbi.nlm.nih.gov/7583548" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01130-1", "protein_name": "Low-density lipoprotein receptor", "gene_name": "LDLR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprotkb/P01130" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7583548", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.", "journal": "Journal of lipid research", "date": "1996", "authors": "Webb JC, Sun XM, McCarthy SN, Neuwirth C, Thompson GR, Knight BL, Soutar AK", "reference": { "type": "PubMed", "id": "9026534", "url": "https://pubmed.ncbi.nlm.nih.gov/9026534" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01130-1", "protein_name": "Low-density lipoprotein receptor", "gene_name": "LDLR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprotkb/P01130" } ], "common_name": "Human", "glygen_name": 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Gundersen KE, Bakken KS, Rodningen OK, Sundvold H, Ose L, Berg K", "reference": { "type": "PubMed", "id": "9104431", "url": "https://pubmed.ncbi.nlm.nih.gov/9104431" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01130-1", "protein_name": "Low-density lipoprotein receptor", "gene_name": "LDLR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprotkb/P01130" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9104431", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.", "journal": "Human genetics", "date": "1997", "authors": "Peeters AV, Van Gaal LF, du Plessis L, Lombardi MP, Havekes LM, Kotze MJ", "reference": { "type": "PubMed", "id": "9254862", "url": "https://pubmed.ncbi.nlm.nih.gov/9254862" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P01130-1", "protein_name": "Low-density lipoprotein receptor", "gene_name": "LDLR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P01130", "url": "https://www.uniprot.org/uniprotkb/P01130" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9254862", "abstract": 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"field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] } ]