ABCMdb

PMID: 11796434

Loubieres Y, Grenet D, Simon-Bouy B, Medioni J, Landais P, Ferec C, Stern M
Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.
Chest. 2002 Jan;121(1):73-80., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* The most frequent CF mutations usually found in the French population (⌬F508, ⌬I507, 1717-1G3A, G542X, G551D, R553X, W1282X, N1303K) were analyzed by polymerase chain reaction and allele-specific oligonucleotide with the INNO-LIPA CF2 kit (Innogenetics; Zwijnaarde, Belgium). Login to comment 136 ABCC7 p.Gly85Glu Another patient presented a G85E mutation, which has been associated with both ps and pi phenotypes.35 In our study, this mutation was considered to be a mild mutation, although this patient had severe disease with a sweat chloride concentration of 157 mEq/L, pi, and severe respiratory disease (FEV1 at 26% of predictive value and Pseudomonas colonization). Login to comment