Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

Biallelic variants in the ERCC excision repair 6 like 2 gene (ERCC6L2) are known to cause bone marrow failure (BMF) due to defects in DNA repair and mitochondrial function. Here, we report on eight cases of BMF from five families harboring biallelic variants in ERCC6L2, two of whom present with myel...

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Detalles Bibliográficos
Autores principales: Tummala, Hemanth, Dokal, Arran D., Walne, Amanda, Ellison, Alicia, Cardoso, Shirleny, Amirthasigamanipillai, Saranha, Kirwan, Michael, Browne, Isobel, Sidhu, Jasmin K., Rajeeve, Vinothini, Rio-Machin, Ana, Seraihi, Ahad Al, Duncombe, Andrew S., Jenner, Matthew, Smith, Owen P., Enright, Helen, Norton, Alice, Aksu, Tekin, Özbek, Namık Yaşar, Pontikos, Nikolas, Cutillas, Pedro, Dokal, Inderjeet, Vulliamy, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2018
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064997/
https://www.ncbi.nlm.nih.gov/pubmed/29987015
http://dx.doi.org/10.1073/pnas.1803275115

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