Wordt geladen...
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...
Bewaard in:
| Hoofdauteurs: | , , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2009
|
| Onderwerpen: | |
| Online toegang: | 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 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|