标题
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 23, Issue 1, Pages 40-51
出版商
Oxford University Press (OUP)
发表日期
2013-08-14
DOI
10.1093/hmg/ddt394
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。- Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
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