Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
出版年份 2011 全文链接
标题
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
作者
关键词
-
出版物
HUMAN GENETICS
Volume 131, Issue 2, Pages 301-310
出版商
Springer Nature
发表日期
2011-08-12
DOI
10.1007/s00439-011-1078-6
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
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- Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly
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- Mutations in the human SIX3 gene in holoprosencephaly are loss of function
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