Cystic fibrosis is a recessive disorder common among Caucasians. Although the disease
has been known in the 1930s, it was only in the late 1980s that the molecular mechanisms …

The relative lack of interest in and knowledge of colobines, together with the concentration of
field studies on a few species, has tended to obscure the fact that the colobines are an …

Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in
Medicine returns as one of the most favored texts in this fascinating and rapidly evolving …

With continued progress in mapping and sequencing of the human genome, and increasing
recognition of the role of genes in disease etiology, there is a need for a more sophisticated …

The cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in cultured
cystic fibrosis airway epithelial cells and Cl− channel activation assessed in single cells …

Objective.—Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has
been suggested that otherwise healthy males with congenital bilateral absence of the vas …

The gene responsible for cystic fibrosis, the most common severe autosomal recessive
disorder, is located on the long arm of human chromosome 7, region q31–q32. The gene …

BACKGROUND: Survival from cystic fibrosis is increasing rapidly. Estimates of the extent of
this improvement should allow health care facilities to be planned to deal with the expanding …

Additional mutations in the cystic fibrosis (CF) gene were identified in the regions
corresponding to the two putative nucleotide (ATP)-binding folds (NBFs) of the predicted …

The most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in
cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is …