PMID: 9191467

Davies JC, Stern M, Dewar A, Caplen NJ, Munkonge FM, Pitt T, Sorgi F, Huang L, Bush A, Geddes DM, Alton EW
CFTR gene transfer reduces the binding of Pseudomonas aeruginosa to cystic fibrosis respiratory epithelium.
Am J Respir Cell Mol Biol. 1997 Jun;16(6):657-63., [PubMed]
Sentences
No. Mutations Sentence Comment
95 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9191467:95:143
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9191467:95:134
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9191467:95:121
status: NEW
view ABCC7 p.Gly542* details
 Twelve patients were homozygous for the dF508 mutation, six were compound heterozygotes with two identified mutations (d/G542X X 3, d/R347P, d/R117H, d/1717), 11 were heterozygous for dF508 with an unknown mutation, and in 3, the genotype was unknown. Login to comment