Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome

标题
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome
作者
关键词
Cornelia de Lange syndrome, NIPBL, Frameshift mutation, Missense mutation
出版物
GENE
Volume 555, Issue 2, Pages 476-480
出版商
Elsevier BV
发表日期
2014-11-18
DOI
10.1016/j.gene.2014.11.033

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