1. CF symptoms depend on residual CFTR activity
CF symptoms depend on residual CFTR activity The left-hand side shows a scale of residual CFTR protein activity, between 0 and 100%. The right-hand side shows corresponding symptoms. Note that heterozygotes, carrying one pathogenic CF allele, still retain 50% of CFTR activity, therefore may be asymptomatic or show only mild symptoms. Only patients with 5% or less residual CFTR activity show full CF symptoms. Figure adapted from Davis 2001.
Maria Jackson et al. Essays Biochem. 2018;62:
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