Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
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Title
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 8, Pages 2218-2227
Publisher
Oxford University Press (OUP)
Online
2015-01-01
DOI
10.1093/hmg/ddu740
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