{
    "record_id": "PubMed.10447266", 
    "reference": {
        "url": "https://www.ncbi.nlm.nih.gov/pubmed/10447266", 
        "type": "PubMed", 
        "id": "10447266"
    }, 
    "title": "Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients.", 
    "journal": "Hum. Mutat.", 
    "referenced_glycans": [], 
    "authors": "Pocovi M., Giraldo P., Perez-Calvo J.I., Sarria A.J.", 
    "date": "1999", 
    "referenced_proteins": [
        "P04062-1"
    ], 
    "abstract": ""
}