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Article

A novel polyadenylation signal mutation in the α<sub>2</sub>‐globin gene causing α thalassaemia

1 May 1994

Abstract excerpt

In a family of Indian origin we have identified a deletion of two bases at the polyadenylation signal sequence of the alpha 2-globin gene (AATAAA-->AATA). Three individuals heterozygous for this mutation display an alpha o-thalassaemia-like phenotype. Single-stranded conformation analysis and automatic sequencing showed no additional mutations in either alpha 1- or alpha 2-globin genes. A previously described...

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Identifiers

PMID: 7947237
DOI: 10.1111/j.1365-2141.1994.tb04883.x

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A novel polyadenylation signal mutation in the α<sub>2</sub>‐globin gene causing α thalassaemiaPMID 7947237Read ↗

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