To determine the number and frequency of mutations that occur at the cystic fibrosis locus (CF), we have examined the allele and haplotype frequencies of eight polymorphic DNA markers linked to CF in 163 Italian patients who were sub-divided according to their clinical presentations. The distributio
Hepatobiliary disease in cystic fibrosis patients with pancreatic sufficiency
โ Scribed by Donna L. Waters; Stuart F. A. Dorney; Margie A. Gruca; Hugh C. O. Martin; Robert Howman-Giles; Alex E. Kan; Merl de Silva; Kevin J. Gaskin
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 990 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0270-9139
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Here we describe the identification of an italian patient homozygote for the D579G mutation affected by a mild form of Cystic Fibrosis with pancreatic sufficiency, minor lung involvement and marked viscosity of the cervical mucous. The D579G mutation causes an A1868G transition, a substitution of an
## Communicated by liirgm Horst Cystic fibrosis (CF) is caused by mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) that codes for a CAMP-regulated chloride channel. The R347P is a missense mutation located within the first membrane spanning domain (MSD1) of
Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful scientific study had ever been done the impression was that CF was extremely rare