Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [electronic resource]

By: Contributor(s): Producer: 20160201Description: 2218-27 p. digitalISSN:
  • 1460-2083
Subject(s): Online resources: In: Human molecular genetics vol. 24
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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