Witt, M

A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux. [electronic resource] - Clinical genetics Sep 1996 - 149-51 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0009-9163

10.1111/j.1399-0004.1996.tb02370.x doi


Adult
Bronchitis--genetics
Cystic Fibrosis--genetics
Cystic Fibrosis Transmembrane Conductance Regulator--genetics
Exocrine Pancreatic Insufficiency--genetics
Female
Gastroesophageal Reflux--genetics
Guanine
Homozygote
Humans
Point Mutation
Thymine