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The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.

The jaundiced, ja/ja, mouse mutant has a severe hemolytic anemia associated with a deficiency of beta-spectrin in erythrocyte ghosts. Genes for the disease phenotype and beta-spectrin colocalize on Chromosome 12. beta-Spectrin mRNA is not detected in reticulocytes or in brain from newborn mutant mic...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Bloom, M L, Kaysser, T M, Birkenmeier, C S, Barker, J E
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44965/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7937844/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.21.10099
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