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

Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination a...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985283/
https://ncbi.nlm.nih.gov/pubmed/29576217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.02.011
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