A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Large genomic rearrangements in patients with cystic fibrosis (CF) account for up to 16–24% of CF alleles negative for point mutations in European populations. Herein, we identified a new large rearrangement removing exon 19 in a young CF patient, who hitherto harbored only the F508del mutation. By...

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Hlavní autoři: Taulan, Magali, Guittard, Caroline, Theze, Corinne, Claustres, Mireille, Georges, Marie des
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987017/
https://ncbi.nlm.nih.gov/pubmed/19436330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.73
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