ABCMdb

PMID: 7539080

Cheadle JP, Meredith AL, Millar-Jones L, Goodchild MC
Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.
J Med Genet. 1995 Feb;32(2):158., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn To date, investigators have described homozygotes for G542X,2 R553X,3 G85E,4 S549N,5 Rl17H,6 2184delA,7 R1162X,8 and W128X.9 We report here two patients, one homozygous for 621 + 1G>T, the other homozygous for 1898 + 1G>A. Login to comment 34 ABCC7 p.Arg553* Mildpulmonary disease in a cystic fibrosis child homozygous for R553X.JMed Genet 1992;29: 597. Login to comment 36 ABCC7 p.Gly85Glu A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease,JIMedGenet 199 1;28:875-7. Login to comment 49 ABCC7 p.Trp1282* Association of a nonsense mutation (W1282X), the most common mutation in the Askenazi Jewish cysticfibrosis patients in Israel, withpre- sentation of severe disease. Login to comment