Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Telomeres are repetitive hexameric sequences located at the end of linear chromosomes. They adopt a lariat-like structure, the T-loop, to prevent them from being recognized as DNA breaks by the DNA repair machinery. RTEL1 is a DNA helicase required for proper telomere replication and stability. In p...

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Bibliografiset tiedot
Julkaisussa:Blood Adv
Päätekijät: Touzot, Fabien, Kermasson, Laetitia, Jullien, Laurent, Moshous, Despina, Ménard, Christelle, Ikincioğullari, Aydan, Doğu, Figen, Sari, Sinan, Giacobbi-Milet, Vannina, Etzioni, Amos, Soulier, Jean, Londono-Vallejo, Arturo, Fischer, Alain, Callebaut, Isabelle, de Villartay, Jean-Pierre, Leblanc, Thierry, Kannengiesser, Caroline, Revy, Patrick
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Hematology 2016
Aiheet:
Hematopoiesis and Stem Cells
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5744058/
https://ncbi.nlm.nih.gov/pubmed/29296694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/bloodadvances.2016001313
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