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Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation assay followed by sequence analysis of genomic DNA. Fewer than half of the...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
1999
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1377904/ https://ncbi.nlm.nih.gov/pubmed/10330348 |
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