Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic ca...

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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: Milev, Miroslav P., Grout, Megan E., Saint-Dic, Djenann, Cheng, Yong-Han Hank, Glass, Ian A., Hale, Christopher J., Hanna, David S., Dorschner, Michael O., Prematilake, Keshika, Shaag, Avraham, Elpeleg, Orly, Sacher, Michael, Doherty, Dan, Edvardson, Simon
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5544387/
https://ncbi.nlm.nih.gov/pubmed/28777934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.006
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