G542X As a Probable Phoenician Cystic Fibrosis Mutation
✍ Scribed by FRANCE LOIRAT, SERGE HAZOUT and GÉRARD LUCOTTE
- Book ID
- 121362879
- Publisher
- Wayne State University Press
- Year
- 1997
- Tongue
- English
- Weight
- 772 KB
- Volume
- 69
- Category
- Article
- ISSN
- 0018-7143
- DOI
- 10.2307/41465564
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📜 SIMILAR VOLUMES
The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary ex
In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the enco