MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
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DOI：
10.1038/74155
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发表时间：
2000-04-01
期刊：
影响因子：
30.8
通讯作者：
van Amstel, HKP
中科院分区：
文献类型：
--
作者：
van den Boogaard, MJH;Dorland, M;van Amstel, HKP
一个牙齿发育不全的荷兰家庭，单纯腭裂和唇裂合并腭裂的各种组合在MSX1的外显子1上显示无义突变（Ser104stop）。该家族的突变表型与msx1突变小鼠相似。
A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.