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CD4(+) T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations
Mulibrey (muscle-liver-brain-eye) syndrome (MUL) is an autosomal recessive disorder caused by mutations in the TRIpartite motif (TRIM)37 gene, encoding for TRIM37 a member of the TRIM E3 ubiquitin ligase protein family. MUL patients are characterized by growth retardation, dysmorphic features, and a...
Autores principales: | Bruzzaniti, Sara, Cirillo, Emilia, Prencipe, Rosaria, Giardino, Giuliana, Lepore, Maria Teresa, Garziano, Federica, Perna, Francesco, Procaccini, Claudio, Mascolo, Luigi, Pagano, Cristina, Fattorusso, Valentina, Mozzillo, Enza, Bifulco, Maurizio, Matarese, Giuseppe, Franzese, Adriana, Pignata, Claudio, Galgani, Mario |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530177/ https://www.ncbi.nlm.nih.gov/pubmed/33042106 http://dx.doi.org/10.3389/fimmu.2020.01742 |
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