| 题名 | Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome |
| 作者 | Seema R. Lalani |
| 杂志 | November 2014 |
| 年|卷|期 | Volume 95, Issue 5, |
| 页码 | p579–583 |
| 链接 | http://www.cell.com/ajhg/fulltext/S0002-9297(14)00397-8 |
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