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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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Losekoot, M, Fodde, R, Harteveld, C L, van Heeren, H, Giordano, P C, Went, L N, Bernini, L F
Format: Artigo
Langue:Inglês
Publié: 1991
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016827/
https://ncbi.nlm.nih.gov/pubmed/1856830
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