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Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis
PURPOSE: Single exon inversions have rarely been described in clinical syndromes and are challenging to detect using Sanger sequencing. We report a 40-year-old woman with adenomatous colon polyps too numerous to count who had a complex inversion spanning the entire exon 10 in the APC gene, causing e...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genet Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4752361/ https://ncbi.nlm.nih.gov/pubmed/24675673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.30 |
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