{
    "record_id": "PubMed.10502788", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10502788", 
        "type": "PubMed", 
        "id": "10502788"
    }, 
    "title": "Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing acceptor site mutation (IVS8-1G>T).", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Batlle A.M.C., Mendez M., Parera V.E., Rossetti M.V., De Siervi A., Varela L.", 
    "date": "1999", 
    "referenced_proteins": [
        "P08397-1"
    ], 
    "abstract": ""
}