Title

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

Document Type

Journal Article

Publication Date

4-2-2015

Journal

American Journal of Human Genetics

Volume

Volume 96, Issue 4

Issue

4

Inclusive Pages

675-81

Keywords

Abnormailities, Multiple--genetics; Alanine-tRNA Ligase--genetics; Epilepsy--genetics; Models, Molecular; Myelin Sheath--pathology; Peripheral Nervous System Diseases--genetics; Phenotype

Comments

This is an open access PubMed Central article. Click on link for full-text access.

Peer Reviewed

1

Open Access

1