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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Sanz, Javier, von Känel, Thomas, Schneider, Mircea, Steiner, Bernhard, Schaller, André, Gallati, Sabina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2010
Schlagworte:
Online Zugang: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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