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

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Bibliographische Detailangaben
Zeitschriftentitel:	PLoS Genetics
Personen und Körperschaften:	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.
In:	PLoS Genetics, 9, 2013, 8, S. e1003695
Format:	E-Article
Sprache:	Englisch
veröffentlicht:	Public Library of Science (PLoS)
Schlagwörter:	Cancer Research Genetics (clinical) Genetics Molecular Biology Ecology, Evolution, Behavior and Systematics

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