Genotype and phenotype in cystic fibrosis.
Questions about the function of the disease-related gene are still not fully answered, but correlations are emerging between specific mutations and a patient's clinical condition. The strongest link is for pancreatic failure. A second involves azoospermia. Indeed, mutations are being found in males with infertility as the sole sign of disease. Improved knowledge of such patterns may suggest novel approaches to severe cystic fibrosis.
Tsui
L C
LC
Division of Gastroenterology and Nutrition, University of Toronto.
Durie
P
P
D001798:Blood Proteins / Q000235:genetics* / Q000502:physiology; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000502:physiology; D005838:Genotype; D006801:Humans; D010641:Phenotype; D017384:Sequence Deletion
D001798:Blood Proteins; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator