{
    "record_id": "PubMed.10330345", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10330345", 
        "type": "PubMed", 
        "id": "10330345"
    }, 
    "title": "A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.", 
    "journal": "Am. J. Hum. Genet.", 
    "referenced_glycans": [], 
    "authors": "Lin J.-P., Campbell K., Wang Jabs E., Boyadjiev S., Frank W., Gelber D., Herman K., Kimonis V.E., Kovach M.J., Llewellyn B., Mazzeo L., Rimer L.A.", 
    "date": "1999", 
    "referenced_proteins": [
        "Q01453-1"
    ], 
    "abstract": ""
}