Comparison between the normal TMEM16A protein and the mutated variant showing the truncating effect that leads to the loss of vast portions of the protein. This leads to severe structural alterations.
Comparison between the normal TMEM16A protein and the mutated variant showing the truncating effect that leads to the loss of vast portions of the protein. This leads to severe structural alterations. J. Park et al. Journal of Medical Genetics Cystic fibrosis is the most frequent severe inherited disorder worldwide. Every year, hundreds of families are confronted with this diagnosis - and to date, there is no cure for this disease that mainly affects the respiratory system. Besides supportive treatments, a lung transplant is often the only option to save a patient's live. Researchers of the Universities of Münster and Regensburg have now discovered a novel disease that might lead to a better understanding of cystic fibrosis and new treatment options in the future.
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