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Article

Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites.

Proceedings of the National Academy of Sciences of the United States of America - 15 May 1992

Rund D, Dowling C, Najjar K, Rachmilewitz E A, Kazazian H H, Oppenheim A

Abstract excerpt

Two mutations in the beta-globin poly(A) signal were identified in Israeli patients with beta +-thalassemia by sequence analysis following PCR. One is a point mutation (AATAAA----AATAAG) and the other is a 5-base-pair deletion (AATAAA----A----). The mutant genes were used to investigate the function of the poly(A) signal in vivo and to evaluate the mechanism whereby these mutations lead to a thalassemic...

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Identifiers

PMID: 1374896
DOI: 10.1073/pnas.89.10.4324
PMCID: PMC49074

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Source receipt: pubmed, retrieved 7 Sept 2026.

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