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...

全面介紹

Na minha lista:
書目詳細資料
發表在:J Clin Invest
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: American Society for Clinical Investigation 2019
主題:
Research Article
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍