Article
The relationship between genotype and phenotype in cystic fibrosis.
Current opinion in pulmonary medicine - 1 Nov 1995
Kerem E, Kerem B
Abstract excerpt
Cystic fibrosis is characterized by a wide variability of clinical expression. The cloning of the cystic fibrosis transmembrane conductance regulator gene and the identification of its mutations has promoted extensive research into the association between genotype and phenotype. Several studies showed that there are mutations, such as delta F508 (the most common mutation worldwide), that are associated with a...
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