ASIA unversity:Item 310904400/64371
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    題名: Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2->p14)
    作者: 陳持平;Chen, Chih-Ping;Meng-Ju Lee;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Meng-Shan Lee;Wayseen Wang
    貢獻者: 生物科技學系
    關鍵詞: 4p14-p15.2;BAC;FISH;Interstitial 4p deletion;OMIM;Online Mendelian Inheritance in Man;Prenatal diagnosis;QF-PCR;WHS;Wolf-Hirschhorn syndrome;aCGH;array comparative genomic hybridization;bacterial artificial chromosome;del;deletion;fluorescence in situ hybridization;quantitative fluorescent polymerase chain reaction
    日期: 2013-10
    上傳時間: 2013-11-01 09:59:10 (UTC+8)
    摘要: We present prenatal diagnosis of de novo proximal interstitial deletion of chromosome 4p (4p15.2 -> T14) and molecular cytogenetic characterization of the deletion using uncultured amniocytes. We review the phenotypic abnormalities of previously reported patients with similar proximal interstitial 4p deletions, and we discuss the functions of the genes of RBPJ, CCKAR, STIM2, PCDH7 and ARAP2 that are deleted within this region.
    關聯: GENE,529(2):351-356.
    顯示於類別:[生物科技學系] 期刊論文

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