DPYD公司
生物
小眼畸形相关转录因子
小RNA
表型
遗传学
转录因子
增强子
基因
药物遗传学
基因型
作者
Marjolein H. Willemsen,Astrid Vallès,Laurens A. M. H. Kirkels,Mathilde Mastebroek,Nikkie Olde Loohuis,Aron Kos,W.M. Wissink-Lindhout,Arjan P.M. de Brouwer,Willy M. Nillesen,Rolph Pfundt,Muriel Holder‐Espinasse,Louis Vallée,Joris Andrieux,Marjolein C. Coppens‐Hofman,Hanneke Rensen,Ben C.J. Hamel,Hans van Bokhoven,Armaz Aschrafi,Tjitske Kleefstra
标识
DOI:10.1136/jmedgenet-2011-100294
摘要
This study showed that dosage effects of MIR137 are associated with 1p21.3 microdeletions and may therefore contribute to the ID phenotype in patients with deletions harbouring this miRNA. A local effect at the synapse might be responsible.
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