Aberrant splicing contributes to severe α-spectrin–linked congenital hemolytic anemia

The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole-exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified numerous mutations in erythrocyte membrane...

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Publicado en:J Clin Invest
Autores principales: Gallagher, Patrick G., Maksimova, Yelena, Lezon-Geyda, Kimberly, Newburger, Peter E., Medeiros, Desiree, Hanson, Robin D., Rothman, Jennifer, Israels, Sara, Wall, Donna A., Sidonio, Robert F., Sieff, Colin, Gowans, L. Kate, Mittal, Nupur, Rivera-Santiago, Roland, Speicher, David W., Baserga, Susan J., Schulz, Vincent P.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2019
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6597203/
https://ncbi.nlm.nih.gov/pubmed/31038472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI127195
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