{
    "record_id": "PubMed.10533072", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10533072", 
        "type": "PubMed", 
        "id": "10533072"
    }, 
    "title": "Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Cox T.M., Elsey T.S., Halligan E.P., Halsall D.J.", 
    "date": "1999", 
    "referenced_proteins": [
        "P15289-1"
    ], 
    "abstract": ""
}