{
    "record_id": "PubMed.10220141", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10220141", 
        "type": "PubMed", 
        "id": "10220141"
    }, 
    "title": "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Levy H.L., Blau N., Thoeny B., Quackenbush E.J., Laufs S., Matasovic A., Scherer-Oppliger T.", 
    "date": "1999", 
    "referenced_proteins": [
        "Q03393-1"
    ], 
    "abstract": ""
}