Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

标题
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
作者
关键词
TRIP4, ASCC1, spinal muscular atrophy, arthrogryposis multiplex congenita, respiratory distress, bone fractures, neuromuscular unit, exome sequencing, zebrafish model
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 98, Issue 3, Pages 473-489
出版商
Elsevier BV
发表日期
2016-02-26
DOI
10.1016/j.ajhg.2016.01.006

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