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Paper Title
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
PubMed
Paper Journal Title
Journal of Clinical Investigation
Paper Citation Count
22
Paper Publication Year
2019
Bio Mention
-spectrin mRNA, 3' splice acceptor site, BP, HPP, SPTA1, SPTA1 alleles, alternate branch point, elongated, elongated mRNA transcript, elongated transcript, erythrocyte membrane -spectrin, genetic disease, hemolytic anemia, hereditary pyropoikilocytosis, human, intron 30 variant, mRNA, minigene, missense mutations, normal, null alleles, patients, rHS, rHS-linked -spectrinBug Hill polymorphism, recessive hereditary spherocytosis, severe, severe anemia, spectrin, spectrin deficiency, termination codon
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Affiliation
David W Speicher
The Center for Systems and Computational Biology and Molecular and Cellular Oncogenesis Program, The Wistar Institute
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