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The CFTR frameshift mutation 3905insT and its effect at transcript and protein level

Cystic fibrosis (CF) is one of the most common genetic diseases in the Caucasian population and is characterized by chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentrations in the sweat and infertility in men. The disease is caused...

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Autori principali: Sanz, Javier, von Känel, Thomas, Schneider, Mircea, Steiner, Bernhard, Schaller, André, Gallati, Sabina
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987192/
https://ncbi.nlm.nih.gov/pubmed/19724303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.140
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