{
    "abstract": "To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).\nDenaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.\nMutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.\nThe identification of the mutation could provide essential data for subsequent therapy and genetic counseling.",
    "authors": [
        {
            "affiliation": "Human Reproductive and Stem Cell Engineering Institute, Central South University, Changsha, Hunan, 410008 PR China.",
            "firstname": "Yue-hong",
            "initials": "YH",
            "lastname": "Liang"
        },
        {
            "affiliation": null,
            "firstname": "Wen",
            "initials": "W",
            "lastname": "Li"
        },
        {
            "affiliation": null,
            "firstname": "Lu-yun",
            "initials": "LY",
            "lastname": "Li"
        },
        {
            "affiliation": null,
            "firstname": "Yi-yan",
            "initials": "YY",
            "lastname": "Ye"
        },
        {
            "affiliation": null,
            "firstname": "Guang-xiu",
            "initials": "GX",
            "lastname": "Lu"
        }
    ],
    "conclusions": "The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.",
    "copyrights": null,
    "doi": null,
    "journal": "Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics",
    "keywords": [],
    "methods": null,
    "publication_date": "2006-10-10",
    "pubmed_id": "17029195",
    "results": "Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.",
    "title": "A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease.",
    "xml": "<Element 'PubmedArticle' at 0x7885060b8860>"
}