A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2) six...

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Bibliografiske detaljer

Udgivet i:	Nucleic Acids Res
Principais autores:	Beldjord, C, Lapoumeroulie, C, Pagnier, J, Benabadji, M, Krishnamoorthy, R, Labie, D, Bank, A
Format:	Artigo
Sprog:	Inglês
Udgivet:	Oxford University Press 1988
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC336707/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3387213/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/16.11.4927
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