Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect-Reference-Cited by-同舟云学术

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Published:2015-04 Issue:4 Volume:96 Page:675-681
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Simons Cas,Griffin Laurie B.,Helman Guy,Golas Gretchen,Pizzino Amy,Bloom Miriam,Murphy Jennifer L.P.,Crawford Joanna,Evans Sarah H.,Topper Scott,Whitehead Matthew T.,Schreiber John M.,Chapman Kimberly A.,Tifft Cyndi,Lu Katrina B.,Gamper Howard,Shigematsu Megumi,Taft Ryan J.,Antonellis Anthony,Hou Ya-Ming,Vanderver Adeline

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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