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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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Detalhes bibliográficos
Main Authors: Viart, Victoria, Georges, Marie Des, Claustres, Mireille, Taulan, Magali
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
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