A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
PLoS Genetics - United States
doi 10.1371/journal.pgen.1003695
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Date
August 29, 2013
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Public Library of Science (PLoS)