De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

DNM1L encodes a GTPase of the dynamin superfamily, which plays a crucial role in mitochondrial and peroxisomal fission. Pathogenic variants affecting the middle domain and the GTPase domain of DNM1L have been implicated in encephalopathy because of defective mitochondrial and peroxisomal fission 1 (...

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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2019
Konular:
Research Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6549558/
https://ncbi.nlm.nih.gov/pubmed/30850373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003673
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