Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.

A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel ele...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Losekoot, M, Fodde, R, Harteveld, C L, van Heeren, H, Giordano, P C, Went, L N, Bernini, L F
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1991
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016827/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1856830/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.4.252
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