{
    "record_id": "PubMed.10583221", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10583221", 
        "type": "PubMed", 
        "id": "10583221"
    }, 
    "title": "Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.", 
    "journal": "British journal of haematology", 
    "referenced_glycans": [], 
    "authors": "Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I", 
    "date": "1999", 
    "referenced_proteins": [
        "P40615-1", 
        "O60832-1"
    ], 
    "abstract": ""
}