A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR 621-]T MUTATION HAS A SEVEREPULMONARY-DISEASE, MILD PANCREATIC INSUFFICIENCY AND A GASTROESOPHAGEAL REFLUX(1G)

Authors
WITT M POGORZELSKI A ZEBRAK J RUTKIEWICZ E
Citation
M. Witt et al., A CYSTIC-FIBROSIS PATIENT HOMOZYGOUS FOR 621-]T MUTATION HAS A SEVEREPULMONARY-DISEASE, MILD PANCREATIC INSUFFICIENCY AND A GASTROESOPHAGEAL REFLUX(1G), Clinical genetics, 50(3), 1996, pp. 149-151
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
50
Issue
3
Year of publication
1996
Pages
149 - 151
Database
ISI
SICI code
0009-9163(1996)50:3<149:ACPHF6>2.0.ZU;2-Z
Abstract
A cystic fibrosis patient homozygous for 621+1G-->T mutation of the CF TR gene has been identified during a molecular screening program of Po lish CF families. The patient is currently a 21-year-old female with s evere pulmonary involvement, mild pancreatic insufficiency and complic ated gastro-esophageal reflux.