A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a clinically severe variant of DC in which...

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Detalles Bibliográficos
Autores principales: Ballew, Bari J., Joseph, Vijai, De, Saurav, Sarek, Grzegorz, Vannier, Jean-Baptiste, Stracker, Travis, Schrader, Kasmintan A., Small, Trudy N., O'Reilly, Richard, Manschreck, Chris, Harlan Fleischut, Megan M., Zhang, Liying, Sullivan, John, Stratton, Kelly, Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Alter, Blanche P., Boland, Joseph, Burdett, Laurie, Offit, Kenneth, Boulton, Simon J., Savage, Sharon A., Petrini, John H. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757051/
https://www.ncbi.nlm.nih.gov/pubmed/24009516
http://dx.doi.org/10.1371/journal.pgen.1003695

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