Characterization of a spontaneous mutation to a beta-thalassemia allele.

We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymor...

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Autores principales: Kazazian, H H, Orkin, S H, Boehm, C D, Goff, S C, Wong, C, Dowling, C E, Newburger, P E, Knowlton, R G, Brown, V, Donis-Keller, H
Formato: Artigo
Lenguaje:Inglês
Publicado: 1986
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684845/
https://ncbi.nlm.nih.gov/pubmed/3014870
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