New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

We have identified a beta-thalassemia gene that carries a novel nonsense mutation in a Chinese patient. This mutation, a G to T substitution at the first position of codon 43, changes the glutamic acid coding triplet (GAG) to a terminator codon (TAG). Based on oligonucleotide hybridization studies o...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Atweh, G F, Brickner, H E, Zhu, X X, Kazazian, H H, Forget, B G
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1988
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303548/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3403716/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113632
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