{
    "PMID": "10472529",
    "TI": "Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.",
    "JT": "Journal of inherited metabolic disease",
    "BTI": "",
    "DP": "1999-08",
    "AU": "Zschocke J, Quak E, Knauer A, Fritz B, Aslan M, Hoffmann G F"
}