Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
RPA1基因的功能获得性突变会导致一种以端粒缩短和体细胞遗传拯救为特征的综合征。
期刊:Blood
影响因子:21
doi:10.1182/blood.2021011980.
Richa Sharma ,Sushree S Sahoo ,Masayoshi Honda ,Sophie L Granger ,Charnise Goodings ,Louis Sanchez ,Axel Künstner ,Hauke Busch ,Fabian Beier ,Shondra M Pruett-Miller ,Marcus B Valentine ,Alfonso G Fernandez ,Ti-Cheng Chang ,Vincent Géli ,Dmitri Churikov ,Sandrine Hirschi ,Victor B Pastor ,Melanie Boerries ,Melchior Lauten ,Charikleia Kelaidi ,Megan A Cooper ,Sarah Nicholas ,Jill A Rosenfeld ,Sophia Polychronopoulou ,Caroline Kannengiesser ,Carole Saintomé ,Charlotte M Niemeyer ,Patrick Revy ,Marc S Wold ,Maria Spies ,Miriam Erlacher ,Stéphane Coulon ,Marcin W Wlodarski
