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Clinical phenotype of cystic fibrosis patients with the G551D mutation
QJM: An International Journal of Medicine, 09/09/09
Comer DM et al. – Mutations on different chromosomes are not independent of each other for the overall impact on the amount of functional CFTR. This study suggests that patients with the G551D mutation and a second severe mutation have a milder clinical phenotype than F508del homozygous patients, but the phenotype is not as mild as patients with the R117H mutation.
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