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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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Bibliografiske detaljer
Main Authors: Sanz, Javier, von Känel, Thomas, Schneider, Mircea, Steiner, Bernhard, Schaller, André, Gallati, Sabina
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2010
Fag:
Online adgang: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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