ABCMdb

PMID: 10502783

Paz-y-Mino C, Perez JC, Burgos R, Davalos MV, Leone PE
The DeltaF508 mutation in Ecuador, South America.
Hum Mutat. 1999;14(4):348-50., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In the affecteds who did not show any ∆F508 allele, we searched for the presence of the eight most common "European" mutations (∆F508, G542X, N1303K, 1717-1, W1282X, G551D, R553X, ∆1507) with the test INNO-Lipa. Login to comment 31 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* However, in this study the G542X and N1303K mutations were found [Villalobos-Torres et al., 1997], although these were not found in Ecuador. Login to comment