{
    "record_id": "PubMed.10200056", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10200056", 
        "type": "PubMed", 
        "id": "10200056"
    }, 
    "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.", 
    "referenced_glycans": [], 
    "authors": "Arrendondo-Vega F.X., Buckley R., Conley M.E., El Dahr J., Hershfield M.S., Notarangelo L.D., Roifman C., Santisteban I.", 
    "date": "1998", 
    "referenced_proteins": [
        "P00813-1"
    ], 
    "abstract": ""
}