https://scholars.lib.ntu.edu.tw/handle/123456789/632932
標題: | A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease | 作者: | MING CHEN Kuo, Shou-Jen Liu, Chin-San Chen, Wei-Liang TSANG-MING KO Chen, Tze-Ho Chang, Shun-Ping Huang, Chien-Hao Chang, Yih-Yuan Wang, Bao-Tyan |
關鍵字: | Holoprosencephaly | Missense mutation | Moyamoya disease | Polymorphism | TGIF | 公開日期: | 三月-2006 | 出版社: | JOHN WILEY & SONS LTD | 卷: | 26 | 期: | 3 | 起(迄)頁: | 226 | 來源出版物: | Prenatal diagnosis | 摘要: | To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/632932 | ISSN: | 0197-3851 | DOI: | 10.1002/pd.1385 |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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