A carregar...
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...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2012
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|