Vastag B. Cystic fibrosis gene testing a challenge: experts say widespread use is creating unnecessary risks. JAMA 2003;289(22):2923-4.Vastag B. Cystic fibrosis gene testing a challenge: experts say widespread use is creating unnecessary risks. (Reprinted) JAMA 2003;289:2923-4....
Cystic fibrosis (CF) is the most common severe genetic disease of Caucasians. Recent work by several laboratories has resulted in the identification of the CF gene and its major mutation. These findings have greatly facilitated carrier detection and prenatal diagnosis for members of families with a...
Candidate and genome-wide approaches have identified biologically plausible gene modifiers of lung disease severity, neonatal intestinal obstruction and diabetes in cystic fibrosis. Annotation of variants in CFTR will increase the utility of genetic testing in newborn screening, carrier testing and diagnosti...
Cystic fibrosis is caused by a mutation in the cystic fibrosis membrane conductance regulator (CFTR) protein. Mutations in the responsible gene, located on chromosome 7, lead to an absent, nonfunctional, or partially functional protein, with resultant abnormal fluid and electrolyte transport across ...
these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of theCFTRgene and further refinements in how best to detect them and assure appropriate quality control while do...
Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). The protein in this gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work properly, a sticky mucus builds up in ...
gene for CF. Carriers of the gene do not have symptoms of CF, but if they have a child who inherits 2 copies (one from each biological parent) of the CF gene, that child will develop cystic fibrosis and can also pass the CF gene on to any children he or she may have. In the ...
Cystic fibrosis is the most common fatal genetic disease in the United States.───囊性纤维化是美国最常见的致命遗传疾病。 Collins wants to avoid repetition of the confusion that followed the discovery in 1989 of the cystic fibrosis gene.───科林斯想要避免1989年发现囊肿性纤维化致病基因后的那种...
Cystic fibrosis is an inherited metabolic disorder, the chief symptom of which is a thick, sticky mucus that clogs the respiratory tract and the gastrointestinal tract. Cystic fibrosis is a recessive genetic disease that mainly affects persons of Europea
Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel expressed in epithelial cells throughout the body. In the lungs, absence or dysfunction of CFTR results in altered epithelial salt and water transport ev...