A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree
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- 作者：Jinjie Xuea ; b ; Qingping Gaoc ; Yanru Huanga ; Xiaoyu Zhangc ; Pu Yanga ; David S. Cramb ; d ; Desheng Lianga ; Lingqian Wua ; wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：Tooth agenesis ; Permanent teeth ; Genome-wide scan ; Short tandem repeat ; Intronic mutation ; MSX1 homeobox gene
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 October 2016
- 年：2016
- 卷：461
- 期：Complete
- 页码：135-140
- 全文大小：695 K
文摘
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Genetic linkage studies of a four-generation Chinese family with autosomal dominant tooth agenesis
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Identification and characterization of a novel intronic MSX1 gene variant as the likely pathogenic mutation
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Functional studies suggesting that the mutation reduces the basal level of mature MSX1 mRNA