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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...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2012
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| Matèries: | |
| Accés en línia: | 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 |
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