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

Human telomere biology disorders (TBD)/short telomere syndromes (STS) are heterogeneous disorders caused by inherited loss-of-function mutations in telomere-associated genes. Here, we identify 3 germline heterozygous missense variants in the RPA1 gene in 4 unrelated probands presenting with short te...

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Detalles Bibliográficos
Autores principales: Sharma, Richa, Sahoo, Sushree S., Honda, Masayoshi, Granger, Sophie L., Goodings, Charnise, Sanchez, Louis, Künstner, Axel, Busch, Hauke, Beier, Fabian, Pruett-Miller, Shondra M., Valentine, Marcus B., Fernandez, Alfonso G., Chang, Ti-Cheng, Géli, Vincent, Churikov, Dmitri, Hirschi, Sandrine, Pastor, Victor B., Boerries, Melanie, Lauten, Melchior, Kelaidi, Charikleia, Cooper, Megan A., Nicholas, Sarah, Rosenfeld, Jill A., Polychronopoulou, Sophia, Kannengiesser, Caroline, Saintomé, Carole, Niemeyer, Charlotte M., Revy, Patrick, Wold, Marc S., Spies, Maria, Erlacher, Miriam, Coulon, Stéphane, Wlodarski, Marcin W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Hematopoiesis and Stem Cells
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8854676/
https://www.ncbi.nlm.nih.gov/pubmed/34767620
http://dx.doi.org/10.1182/blood.2021011980

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