Article
Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
The European respiratory journal - 1 May 2004
Decaestecker K, Decaestecker E, Castellani C, Jaspers M, Cuppens H, De Boeck K
Abstract excerpt
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G85E mutation, was investigated. Each index case was compared with two cystic fibrosis (CF) patients from the same clinic, matched for age and sex: one with pancreatic sufficiency (PS) and one with pancreatic insufficiency (PI). When comparing 31 G85E/F508del and F508del/F508del patients, there were no differences in...
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