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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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2013
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757051/
https://ncbi.nlm.nih.gov/pubmed/24009516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003695
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