{
    "record_id": "PubMed.10447271", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10447271", 
        "type": "PubMed", 
        "id": "10447271"
    }, 
    "title": "Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Bernard O., Labrune P., Capel L., Chalas J., Francoual J., Trioche P.", 
    "date": "1999", 
    "referenced_proteins": [
        "P35575-1"
    ], 
    "abstract": ""
}