中國醫藥大學機構典藏 China Medical University Repository, Taiwan:Item 310903500/30519
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    题名: Prediction of chemotherapy response in untreated malignant lymphomas using technetium-99m methoxyisobutylisonitrile scan: Comparison with P-glycoprotein expression and other prognostic factors. A preliminary report
    作者: Liang, JA;Shiau, YC;Yang, SN;Lin, FJ;Kao, A;Lee, CC
    贡献者: 附設醫院醫研部;China Med Coll Hosp, Dept Med Res, Taichung 404, Taiwan
    日期: 2002
    上传时间: 2010-09-24 14:56:54 (UTC+8)
    出版者: OXFORD UNIV PRESS
    摘要: The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.
    關聯: JAPANESE JOURNAL OF CLINICAL ONCOLOGY 32(4):140-145
    显示于类别:[台中附設醫院] 期刊論文

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