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Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.

In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. Th...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Rosatelli, C, Leoni, G B, Tuveri, T, Scalas, M T, Di Tucci, A, Cao, A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1987
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049897/
https://ncbi.nlm.nih.gov/pubmed/3031299
Tagiau: Ychwanegu Tag
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