Download Citation
Article Source:
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
Ballew BJ,
Joseph V,
De S,
Sarek G,
Vannier JB,
et al.
(2013)
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome.
PLOS Genetics 9(8): e1003695.
https://doi.org/10.1371/journal.pgen.1003695