Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Sharma, R; Sahoo, SS; Honda, M; Granger, SL; Goodings, C; Sanchez, L; Kunstner, A; Busch, H; Beier, F; Pruett-Miller, SM; Valentine, MB; Fernandez, AG; Chang, TC; Geli, V; Churikov, D; Hirschi, S; Pastor, VB; Boerries, M; Lauten, M; Kelaidi, C; Cooper, MA; Nicholas, S; Rosenfeld, JA; Polychronopoulou, S; Kannengiesser, C; Saintome, C; Niemeyer, CM; Revy, P; Wold, MS; Spies, M; Erlacher, M; Coulon, S; Wlodarski, MW

Wlodarski, MW (通讯作者)，St Jude Childrens Res Hosp, 262 Danny Thomas Pl,MS 341, Memphis, TN 38105 USA.

BLOOD, 2022; 139 (7): 1039

Abstract

Human telomere biology disorders (TBD)/short telomere syndromes (STS) are heterogeneous disorders caused by inherited loss-of-function mutations in te......

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