ABCMdb

PMID: 10639207

Mussaffi H, Greif J, Kornreich L, Ashkenazi S, Levy Y, Schonfeld T, Blau H
Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.
Pediatr Pulmonol. 2000 Feb;29(2):155-9., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Trp1282* The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. Login to comment 18 ABCC7 p.Trp1282* The father of this patient is an asthmatic and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. Login to comment 22 ABCC7 p.Trp1282* ABCC7 p.Gly542* Sweat chloride was 101 mEq/L, and her gene mutations were W1282X and G542X. Login to comment 82 ABCC7 p.Trp1282* He has a normal sweat test and is heterozygous for the W1282X mutation for cystic fibrosis. Login to comment 102 ABCC7 p.Trp1282* Although their underlying diseases are different (the father is an asthmatic and the child has CF), they both carry the W1282X mutation for CFTR. Login to comment