A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Early infantile epileptic encephalopathy-44 (EIEE44, MIM: 617132) is a previously described condition resulting from biallelic variants in UBA5, a gene involved in a ubiquitin-like post-translational modification system called UFMylation. Here we report five children from four families with bialleli...

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Detalles Bibliográficos
Autores principales: Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208045/
https://www.ncbi.nlm.nih.gov/pubmed/33811063
http://dx.doi.org/10.1101/mcs.a005827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208045/
https://www.ncbi.nlm.nih.gov/pubmed/33811063
http://dx.doi.org/10.1101/mcs.a005827

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