A cystic fibrosis patient homozygous for 621 + 1G-->T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux.
A cystic fibrosis patient homozygous for 621 + 1G-->T mutation of the CFTR gene has been identified during a molecular screening program of Polish CF families. The patient is currently a 21-year-old female with severe pulmonary involvement, mild pancreatic insufficiency and complicated gastroesophageal reflux.
Witt
M
M
Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
Pogorzelski
A
A
Zebrak
J
J
Rutkiewicz
E
E
D000328:Adult; D001991:Bronchitis / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005764:Gastroesophageal Reflux / Q000235:genetics* / Q000503:physiopathology; D006147:Guanine; D006720:Homozygote; D006801:Humans; D017354:Point Mutation; D013941:Thymine
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006147:Guanine; D013941:Thymine