Three novel TBX5 mutations in Chinese pa
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Yang, Jinfu; Hu, Dongxu; Xia, Jiahui; Yang, Yifeng; Ying, Bangliang; Hu, Jianguo
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Article
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2000
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John Wiley and Sons
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English
โ 28 KB
๐ 2 views
Holt-Oram syndrome (HOS) is an autosomal dominant syndrome that comprises upper limb and cardiac defects. The gene responsible for HOS, TBX5, was isolated and many mutations have been identified in HOS patients. We analyzed 11 Chinese HOS patients (7 from three families and 4 sporadic cases) for TBX