Article
Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
Clinical genetics - 1 May 1998
Schaedel C, Andersson A M, Kristoffersson A C, Kornfält R, Lannefors L, Holmberg L
Abstract excerpt
In this study of cystic fibrosis (CF) gene mutations in Southern Sweden we found missense mutations in 12 out of 110 patients. These patients, as a group, differed from deltaF508 homozygotes by a higher frequency of pancreatic sufficiency and an older age at diagnosis as has been indicated in previous studies. In addition, lung function (vital capacity (VC) and forced expiratory volume in 1 s (FEV1)) tended to be...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
