Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Abstract: 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 stabi...

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Bibliographic Details
Main Authors: Fabien Touzot, Laetitia Kermasson, Laurent Jullien, Despina Moshous, Christelle Ménard, Aydan Ikincioğullari, Figen Doğu, Sinan Sari, Vannina Giacobbi-Milet, Amos Etzioni, Jean Soulier, Arturo Londono-Vallejo, Alain Fischer, Isabelle Callebaut, Jean-Pierre de Villartay, Thierry Leblanc, Caroline Kannengiesser, Patrick Revy
Format: Article
Language:English
Published: Elsevier 2016-11-01
Series:Blood Advances
Online Access:http://www.sciencedirect.com/science/article/pii/S2473952920303682

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http://www.sciencedirect.com/science/article/pii/S2473952920303682

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