A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
出版年份 2014 全文链接
标题
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
作者
关键词
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出版物
HUMAN MOLECULAR GENETICS
Volume 24, Issue 5, Pages 1410-1419
出版商
Oxford University Press (OUP)
发表日期
2014-11-01
DOI
10.1093/hmg/ddu555
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
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