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Publication Reprint Request

Title: A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Authors: Ballew BJ,  Joseph V,  De S,  Sarek G,  Vannier JB,  Stracker T,  Schrader KA,  Small TN,  O'Reilly R,  Manschreck C,  Harlan Fleischut MM,  Zhang L,  Sullivan J,  Stratton K,  Yeager M,  Jacobs K,  Giri N,  Alter BP,  Boland J,  Burdett L,  Offit K,  Boulton SJ,  Savage SA,  Petrini JH
Journal: PLoS Genet 9(8):e1003695
Date: 2013 Aug
Branches: CGB, CGR
PubMedID: 24009516

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