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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Библиографические подробности
Опубликовано в: :Proc Natl Acad Sci U S A
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2018
Предметы:
Biological Sciences
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6064997/
https://ncbi.nlm.nih.gov/pubmed/29987015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1803275115
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