Mitochondrial disorders are increasingly being diagnosed, especially among patients with
multiple, seemingly unrelated, neuromuscular and multi-sytem disorders. The genetics are …

Background The roles of mitochondria in energy metabolism, the generation of ROS, aging,
and the initiation of apoptosis have implicated their importance in tumorigenesis. In this …

Background: Complete gene analysis of the cystic fibrosis transmembrane conductance
regulator gene (CFTR) by scanning and/or sequencing is seldom performed because of the …

BACKGROUND: Clinically affected cystic fibrosis (CF) patients present a spectrum of genital
phenotypes ranging from normal fertility to moderately impaired spermatogenesis and …

A disparity between Caucasian and Hispanic mutation detection for cystic fibrosis continues
to exist, although the carrier frequency is only moderately lower in Hispanics. We aimed to …

As it is well established that an association exists between congenital bilateral absence of
the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR (TG) m …

Background Patients with cystic fibrosis (CF) manifest a multisystem disease due to
deleterious mutations in each gene encoding the cystic fibrosis transmembrane …

Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare
in Southeast Asia including Japan. Here, we report three CF cases encountered in …

Naturally occurring cystic fibrosis (CF)-causing mutations in the CFTR gene have not been
identified in any nonhuman animal species. Since domestic dogs are known to develop …

This paper introduces a disposable magnetic beads-based DNA biosensor for the rapid,
sensitive and selective detection of Delta F508 (ΔF508del) Cystic Fibrosis (CF) gene …