ABCMdb

PMID: 15716623

Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
J Korean Med Sci. 2005 Feb;20(1):153-7., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Gln1291* The genetic analysis revealed that she was the compound heterozygote of Q1291X and IVS8 T5-M470V. Login to comment 64 ABCC7 p.Gln1291* Two disease-related mutations were identified in this patient: Q1291X and IVS8 T5-M470V. Login to comment 66 ABCC7 p.Gln1291* Finally, it was identified that Q1291X was from her father and IVS8 T5-M470V was from her mother in the genetic analyses of family members (Fig. 2). Login to comment 121 ABCC7 p.Gln1352His For example, Q1352H mutation showed about 0.9% heterozygote frequencies in the control Korean population and was associated with the chronic bronchiectasis as a haplo-insufficiency form. Login to comment 123 ABCC7 p.Gln1291* In the first case, IVS8 T5-M470V and Q1291X mutations were identified in each allele. Login to comment 125 ABCC7 p.Gln1291* Q1291X mutation evokes the deletion of C-terminal 63 amino acids from intact CFTR protein and also was shown to be associated with CF (19). Login to comment