{
    "record_id": "PubMed.10521297", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10521297", 
        "type": "PubMed", 
        "id": "10521297"
    }, 
    "title": "Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.", 
    "journal": "Am. J. Hum. Genet.", 
    "referenced_glycans": [], 
    "authors": "Ohno K., Yamamoto T., Marcais C., Vanier M.T., Wenger D.A., Rafi M.A., Morris J.A., Millat G., Pentchev P.G.", 
    "date": "1999", 
    "referenced_proteins": [
        "O15118-1"
    ], 
    "abstract": ""
}