Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
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Title
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 38, Issue 10, Pages 1348-1354
Publisher
Wiley
Online
2017-05-11
DOI
10.1002/humu.23250
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Note: Only part of the references are listed.- Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
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