Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.

Abstract excerpt

More than 600 different CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations have been identified so far that are considered to cause the fatal genetic disorder cystic fibrosis (CF). We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene. Six different CFTR mutations were...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Child, Preschool
• Share to Cystic Fibrosis