ABCMdb

PMID: 1284531

Shackleton S, Harris A
G27X: a novel mutation in exon 2 of the CF gene.
Hum Mol Genet. 1992 Sep;1(6):445., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCC7 p.Gly27* The patient with the G27X/AF508 genotype has classical cystic fibrosis and pancreatic insufficiency. Login to comment 11 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* To date more than 27 predicted 'stop' mutations have been defined in the CF gene (4), several of these including G542X (5), R553X (6) and W1282X (7) being sufficently common to encounter homozygotes for the mutation, thus enabling potentially more informative predictions of genotype/phenotype associations. Login to comment 15 ABCC7 p.Gly27* It remains to be seen whether G27X will be common enough to occur sufficiently often in a homozygote state for any worthwhile genotype/phenotype predictions to be made. Login to comment