{
    "title": "Spectrum of mutations in fucosidosis.",
    "journal": "European journal of human genetics : EJHG",
    "date": "1999",
    "authors": "Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS",
    "reference": {
        "type": "PubMed",
        "id": "10094192",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10094192"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "P21217-1",
            "protein_name": "3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3",
            "gene_name": "FUT3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P01229-1",
            "protein_name": "Lutropin subunit beta",
            "gene_name": "LHB",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9BYC5-1",
            "protein_name": "Alpha-(1,6)-fucosyltransferase",
            "gene_name": "FUT8",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q10469-1",
            "protein_name": "Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",
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            "tax_name": "Human"
        },
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            "tax_name": "Human"
        },
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            "tax_name": "Human"
        },
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            "protein_name": "Alpha-mannosidase 2",
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            "tax_name": "Human"
        },
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            "uniprot_canonical_ac": "P49641-3",
            "protein_name": "Alpha-mannosidase 2x",
            "gene_name": "MAN2A2",
            "tax_name": "Human"
        },
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            "uniprot_canonical_ac": "P04066-1",
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        },
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        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P21217",
                    "url": "https://www.uniprot.org/uniprot/P21217"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10094192",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
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