Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome.
作者信息
Tay Y-L
机构信息
Translational Laboratory in Genetic Medicine (TLGM), Agency for Science, Technology and Research (A*STAR), National University of Singapore, Singapore, Singapore.
出版信息
Clin Genet. 2015 Jan;87(1):32-3. doi: 10.1111/cge.12495. Epub 2014 Oct 7.
PMID:25174690
Abstract
摘要
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