ABCMdb

PMID: 8572248

Mergey M, Lemnaouar M, Veissiere D, Perricaudet M, Gruenert DC, Picard J, Capeau J, Brahimi-Horn MC, Paul A
CFTR gene transfer corrects defective glycoconjugate secretion in human CF epithelial tracheal cells.
Am J Physiol. 1995 Dec;269(6 Pt 1):L855-64., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Asn1303Lys ABCC7 p.Ser549Asn One was a compound heterozygote with S549N and N1303K mutations (CFT-1); the other was homozygous for the AF508 mutation (CFT-2). Login to comment 51 ABCC7 p.Ser549Asn The CF cell lines used in this study are tracheal epithelial cells from two CF fetuses with different mutations in the CFTR gene: CFT-1 cells are compound heterozygote for S549N and Nl303K mutations; CFT-2 cells are homozygous for the AF508 mutation (23). Login to comment 251 ABCC7 p.Asn1303Lys ABCC7 p.Ser549Asn Correction was consistently more marked in the homozygous AF508 cell line CFT-2 than in the compound heterozygote S549N/N1303K cell line CFT-1. Login to comment 291 ABCC7 p.Ser549Asn The recovery was greater for the cells carrying the AF508 deletion than for those with the S549N/Nl303K mutation. Login to comment