Lataa...
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation
In monogenic diseases, the presence of several sequence variations in the same allele may complicate our understanding of genotype–phenotype relationships. We described new alterations identified in a cystic fibrosis (CF) patient harboring a 48C>G promoter sequence variation associated in cis of...
Tallennettuna:
| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2012
|
| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3260914/ https://ncbi.nlm.nih.gov/pubmed/21847140 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.161 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|