Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide‐binding domain 1
Misfolding and degradation of CFTR is the cause of disease in patients with the most prevalent CFTR mutation, an in‐frame deletion of phenylalanine (F508del), located in the first nucleotide‐binding domain of human CFTR (hNBD1). Studies of (F508del)CFTR cellular folding suggest that both intra‐ and...
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Veröffentlicht in: | Protein science 2010-10, Vol.19 (10), p.1917-1931 |
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Format: | Artikel |
Sprache: | eng |
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