Peter Durie

Cystic fibrosis patients bearing both the common missense mutation, Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus

Hamosh, Ada, King, Terri M., Rosenstein, Beryl J., Corey, Mary, Levison, Henry, Durie, Peter, ...

The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third...

Cystic fibrosis patients bearing both the common missense mutation, Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus

Hamosh, Ada, King, Terri M., Rosenstein, Beryl J., Corey, Mary, Levison, Henry, Durie, Peter, ...

The glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third...

Complex two-gene modulation of lung disease severity in children with cystic fibrosis

Dorfman, Ruslan, Sandford, Andrew, Taylor, Chelsea, Huang, Baisong, Frangolias, Daisy, Wang, Yongqian, ...

Although cystic fibrosis (CF) is a monogenic disease, its clinical manifestations are influenced in a complex manner. Severity of lung disease, the main cause of mortality among CF patients, is...