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The ΔF508 mutation in mild adult forms of cystic fibrosis (CF)
Author(s) -
SimonBouy Brigitte,
Mornet Etienne,
Taillandier Agnes,
Serre JeanLouis,
Boue Joelle,
Boue Andre
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03030.x
Subject(s) - cystic fibrosis , mutation , δf508 , cystic fibrosis transmembrane conductance regulator , medicine , pancreatic disease , heterozygote advantage , gastroenterology , genetics , endocrinology , pathology , biology , genotype , gene , pancreas
Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for ΔF508. This mutation was found to be significantly less frequent than in the severe form of the disease.