Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

标题
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
作者
关键词
Glycine transporter, GLYT1, SLC6A9, encephalopathy, hypotonia, hypertonicity, arthrogryposis, respiratory failure
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 99, Issue 5, Pages 1172-1180
出版商
Elsevier BV
发表日期
2016-10-21
DOI
10.1016/j.ajhg.2016.09.004

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