{
    "record_id": "PubMed.10486316", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10486316", 
        "type": "PubMed", 
        "id": "10486316"
    }, 
    "title": "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.", 
    "journal": "Am. J. Hum. Genet.", 
    "referenced_glycans": [], 
    "authors": "Tranebjaerg L., Cox G.F., Brunner H.G., Vikkula M., Olsen B.R., Mulliken J.B., Koerkkoe J., Warman M.L., Prockop D.J., Zlotogora J., Somer M., Ala-Kokko L., Annunen S., Latos-Bielenska A., Davenport S.L.H., Kaeaeriaeinen H., Kaitila I., Cruysberg J.R., Brooks D.G., Curtis M.A., Czarny M., Friedrich C.A., Krawczynski M.R., Mukai S., Shinno N.", 
    "date": "1999", 
    "referenced_proteins": [
        "P12107-1"
    ], 
    "abstract": ""
}