## Communicated by Michel Coossens Cystic fibrosis (CF) is a common recessive lethal genetic disorder caused by various mutations in the
β¦ LIBER β¦
Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene
β Scribed by Graham, Colin A.; Goon, Peter K-C; Hill, Alison J.M.; Norman, C.Nevin
- Book ID
- 123546285
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 459 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0888-7543
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The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f