Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

Overlapping complementary DNA clones were isolated from epithelial cell libraries with a
genomic DNA segment containing a portion of the putative cystic fibrosis (CF) locus, which is …

The cystic fibrosis gene was recently cloned, and a three-base deletion removing
phenylalanine 508 from the coding region was identified as the mutation on the majority of …

Patients with cystic fibrosis (CF) generally suffer from chronic obstructive lung disease,
pancreatic insufficiency (PI), and a number of other exocrine malfunctions. Approximately …

Although the major mutation causing cystic fibrosis accounts for almost 70% of mutant
chromosomes screened, almost 300 sequence alterations have been identified in the gene …

An understanding of the basic defect in the inherited disorder cystic fibrosis requires cloning
of the cystic fibrosis gene and definition of its protein product. In the absence of direct …

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families,
to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in …

CYSTICfibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600
Caucasians1. The disease causes defective regulation of chloride-ion transport in exocrine …

We showed elsewhere that the pancreatic function status of cystic fibrosis (CF) patients
could be correlated to mutations in the CF transmembrane conductance regulator (CFTR) …

The discovery last year of the deletion of a phenylalanine residue at amino acid position 508
of the cystic fibrosis (CF) gene has meant that approximately 70% of mutant chromosomes …