{
    "title": "Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del.",
    "journal": "Hum. Mutat.",
    "date": "1998",
    "authors": "Arrendondo-Vega F.X., Buckley R., Conley M.E., El Dahr J., Hershfield M.S., Notarangelo L.D., Roifman C., Santisteban I.",
    "reference": {
        "type": "PubMed",
        "id": "10200056",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10200056"
    },
    "referenced_proteins": [
        "P00813-1"
    ],
    "referenced_glycans": [],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P00813",
                    "url": "https://www.uniprot.org/uniprot/P00813"
                }
            ],
            "common_name": "Human"
        }
    ],
    "record_id": "pubmed.10200056",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
    "phosphorylation": [],
    "glycation": []
}