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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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| Huvudupphovsmän: | , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
1987
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049897/ https://ncbi.nlm.nih.gov/pubmed/3031299 |
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