{
    "record_id": "PubMed.10200054", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10200054", 
        "type": "PubMed", 
        "id": "10200054"
    }, 
    "title": "Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification.", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Cruts M., van Broeckhoven C., Sturtz F., Chazot G., Vandenberghe A., Broussolle E., Besancon R., Chamba G., Lorenzi A., Radawiec S.", 
    "date": "1998", 
    "referenced_proteins": [
        "P49768-1"
    ], 
    "abstract": ""
}