{
    "record_id": "PubMed.10364516", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10364516", 
        "type": "PubMed", 
        "id": "10364516"
    }, 
    "title": "X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.", 
    "journal": "Am. J. Hum. Genet.", 
    "referenced_glycans": [], 
    "authors": "Poustka A., Stavrides G., Mason P.J., Heiss N.S., Dokal I., Greschner S., Knight S.W., Lestringant G., Pai G.S., Varma N., Vulliamy T.J.", 
    "date": "1999", 
    "referenced_proteins": [
        "O60832-1"
    ], 
    "abstract": ""
}