2020
DOI: 10.1016/j.jcf.2019.12.013
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Exploring the basic mechanisms in Cystic Fibrosis: Promoting data presentation and discussion at the 16th ECFS Basic Science Conference

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“…The phe508del mutation accounts for 66% of CFTR mutations in many communities (Pineau, et al 2021). It is not clear why the phe508del mutation is so common, but possibly because all phe508del alleles originated from an early genetic event that occurred at an early point in the human population drift (more than 10,000 years ago) (Callebaut, et al 2020). The distribution of this mutation decreases from northwestern Europe to southeastern and western Asia, indicating the fundamental effect of this mutation.…”
Section: Genetics Of Cystic Fibrosis and Its Geographical Distributionmentioning
confidence: 99%
“…The phe508del mutation accounts for 66% of CFTR mutations in many communities (Pineau, et al 2021). It is not clear why the phe508del mutation is so common, but possibly because all phe508del alleles originated from an early genetic event that occurred at an early point in the human population drift (more than 10,000 years ago) (Callebaut, et al 2020). The distribution of this mutation decreases from northwestern Europe to southeastern and western Asia, indicating the fundamental effect of this mutation.…”
Section: Genetics Of Cystic Fibrosis and Its Geographical Distributionmentioning
confidence: 99%