Article
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.
British journal of haematology - 1 Dec 1996
Harteveld C L, Heister J G, Giordano P C, Batelaan D, von Delft P, Haak H L, Wijermans P W, Losekoot M, Bernini L F
Abstract excerpt
We report the characterization of an alpha +(-)thalassaemia determinant due to a transition A-->G of the acceptor splice consensus site sequence (IVS1-116) of the first intron of the alpha 2-globin gene. The mutation, found in two apparently unrelated Dutch Caucasian families, was detected by DGGE analysis followed by direct sequencing. Haplotype analysis suggests a common origin of the mutation in both families....
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