A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

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 Scott, Hamish S.

PLoS genetics, 2013-08, Vol.9 (8), p.e1003695-e1003695 [Periódico revisado por pares]

United States: Public Library of Science

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