Bi-allelic Mutations in EPRS , Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy - Marisa I. Mendes, Mariana Gutierrez Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desiree E. C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aida Lemes - Dissemin

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Cell Press, American Journal of Human Genetics, 4(102), p. 676-684, 2018

DOI: 10.1016/j.ajhg.2018.02.011

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Bi-allelic Mutations in EPRS , Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Journal article published in 2018 by Marisa I. Mendes, Mariana Gutierrez Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desiree E. C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aida Lemes and other authors.

This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

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