Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.

Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome.
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DOI:
10.1136/jmg.40.3.e29
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发表时间:
2003-03-01
影响因子:
4
通讯作者:
Wang, Q
Wang, Q
中科院分区:
医学1区
文献类型:
--
作者:
Fan, C;Duhagon, M A;Wang, Q

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材料和方法基因分型、连锁和突变分析根据当地机构审查委员会制定的指南获得参与者的知情同意。参与者通过访谈、体格检查、X光、心电图和超声心动图进行评估。
MATERIALS AND METHODS Genotyping, linkage, and mutation analysis Informed consent was obtained from the participants in accordance with guidelines established by local institutional review boards. The participants involved were evaluated by interviews, physical examinations, x ray, electrocardiography, and echocardiography.