A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia

Ribosome dysfunction is implicated in multiple abnormal developmental and disease states in humans. Heterozygous germline mutations in genes encoding ribosomal proteins are found in most individuals with Diamond-Blackfan anemia (DBA), whereas somatic mutations have been implicated in a variety of ca...

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Detalles Bibliográficos
Autores principales: Yu, Lei, Lemay, Philippe, Ludlow, Alexander, Guyot, Marie-Claude, Jones, Morgan, Mohamed, Fatma F., Saroya, Ghazi-Abdullah, Panaretos, Christopher, Schneider, Emily, Wang, Yu, Myers, Greggory, Khoriaty, Rami, Li, Qing, Franceschi, Renny, Engel, James Douglas, Kaartinen, Vesa, Rothstein, Thomas L., Justice, Monica J., Kibar, Zoha, Singh, Sharon A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Red Cells, Iron, and Erythropoiesis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945612/
https://www.ncbi.nlm.nih.gov/pubmed/34464976
http://dx.doi.org/10.1182/bloodadvances.2021004658

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945612/
https://www.ncbi.nlm.nih.gov/pubmed/34464976
http://dx.doi.org/10.1182/bloodadvances.2021004658

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