A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.

Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brummendorf TH, Burger F, Sauer SW, Hoffmann GF, Lorenz H, Tagliaferri L, Nowak D, Hofmann WK, Buergermeister R, Kerber C, Rausch T, Korbel JO, Luke B, Trumpp A, Kulozik AE
Aging (Albany NY). 2015 Nov;7(11):911-27. PubMed Article

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