A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair

Severe Combined Immune Deficiency (SCID) is a primary deficiency of the immune system in which opportunistic and recurring infections are often fatal during neonatal or infant life. SCID is caused by an increasing number of genetic defects that induce an abrogation of T lymphocyte development or fun...

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Detalles Bibliográficos
Autores principales: Strubbe, Steven, De Bruyne, Marieke, Pannicke, Ulrich, Beyls, Elien, Vandekerckhove, Bart, Leclercq, Georges, De Baere, Elfride, Bordon, Victoria, Vral, Anne, Schwarz, Klaus, Haerynck, Filomeen, Taghon, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248492/
https://www.ncbi.nlm.nih.gov/pubmed/34220820
http://dx.doi.org/10.3389/fimmu.2021.674226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248492/
https://www.ncbi.nlm.nih.gov/pubmed/34220820
http://dx.doi.org/10.3389/fimmu.2021.674226

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