Research on mapping diabetes-susceptibility genes is dependent on several factors,
including the existence of a single major gene for susceptibility, genetic homogeneity, and …

X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of
kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects …

Cosmid clones containing human DNA inserts have been mapped on chromosome 11 by
fluorescence in situ hybridization under conditions that suppress signal from repetitive DNA …

We have identified three different point mutations in the coding region of the cystic fibrosis
transmembrane conductance regulator (CFTR) gene. Each mutation segregates with the …

Idiopathic generalized epilepsies, ie, juvenile myoclonic epilepsy (JME), childhood absence
epilepsy, and epilepsy with grand mal [generalized tonic‐clonic seizures (GTCS)], are the …

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 …

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 …

In the cystic fibrosis (CF) gene, recently cloned, a three base pair deletion (ΔF508) has been
identified in a majority of CF patients. This deletion has been found in 80% of CF …

Impressive progress has been made during the past several decades in understanding the
pathogenesis of human genetic disease. The tools of molecular biology have allowed the …

A heterologous rDNA probe was used to detect restriction fragment length polymorphisms in
Entomophaga rDNA sequences. Six Canadian strains of Entomophaga aulicae, isolated …