{
    "abstract": null,
    "authors": [
        {
            "affiliation": "Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.\nDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.\nCREST, Japan Science and Technology Corporation, Kawaguchi, Japan.",
            "firstname": "Akira",
            "initials": "A",
            "lastname": "Kinoshita"
        },
        {
            "affiliation": "Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.",
            "firstname": "Yasuyuki",
            "initials": "Y",
            "lastname": "Fukumaki"
        },
        {
            "affiliation": "Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.",
            "firstname": "Shuya",
            "initials": "S",
            "lastname": "Shirahama"
        },
        {
            "affiliation": "Center for Molecular Biology and Cytogenetics, SRL, Inc., Tokyo, Japan.",
            "firstname": "Akira",
            "initials": "A",
            "lastname": "Miyahara"
        },
        {
            "affiliation": "Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan.",
            "firstname": "Gen",
            "initials": "G",
            "lastname": "Nishimura"
        },
        {
            "affiliation": "Department of Pediatric Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.",
            "firstname": "Nobuhiko",
            "initials": "N",
            "lastname": "Haga"
        },
        {
            "affiliation": "Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan.",
            "firstname": "Atsushi",
            "initials": "A",
            "lastname": "Namba"
        },
        {
            "affiliation": "Division of Pediatric Neurology, Osaka Medical Center and Research for Maternal and Child Health, Osaka, Japan.",
            "firstname": "Hitoshi",
            "initials": "H",
            "lastname": "Ueda"
        },
        {
            "affiliation": "Department of Community and General Medicine, Sapporo Medical University, Sapporo, Japan.",
            "firstname": "Hiromi",
            "initials": "H",
            "lastname": "Hayashi"
        },
        {
            "affiliation": "Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo, Japan.",
            "firstname": "Shiro",
            "initials": "S",
            "lastname": "Ikegawa"
        },
        {
            "affiliation": "Department of Pediatrics and Clinical Genetics, Friedrich-Schiller University of Jena, Jena, Germany.",
            "firstname": "Joerg",
            "initials": "J",
            "lastname": "Seidel"
        },
        {
            "affiliation": "Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.\nCREST, Japan Science and Technology Corporation, Kawaguchi, Japan.",
            "firstname": "Norio",
            "initials": "N",
            "lastname": "Niikawa"
        },
        {
            "affiliation": "Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan.\nCREST, Japan Science and Technology Corporation, Kawaguchi, Japan.",
            "firstname": "Koh-Ichiro",
            "initials": "KI",
            "lastname": "Yoshiura"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.1002/ajmg.a.20671",
    "journal": "American journal of medical genetics. Part A",
    "keywords": [],
    "methods": null,
    "publication_date": "2004-04-23",
    "pubmed_id": "15103729",
    "results": null,
    "title": "TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.",
    "xml": "<Element 'PubmedArticle' at 0x788506cca020>"
}