Trends in Genetics
Volume 8, Issue 11, November 1992, Pages 392-398
Journal home page for Trends in Genetics

Review
The spectrum of cystic fibrosis mutations

https://doi.org/10.1016/0168-9525(92)90301-JGet rights and content

Abstract

Although the major mutation causing cystic fibrosis accounts for almost 70% of mutant chromosomes screened, almost 300 sequence alterations have been identified in the gene during the past two and a half years. At least 230 of these mutations are probably associated with disease. This rapid accumulation of data is in part due to the highly coordinated effort by members of the Cystic Fibrosis Genetic Analysis Consortium. The information is not only essential to genetic diagnosis, but also will aid in understanding the structure and function of the protein, and possibly in correlating genotype with phenotype.

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    The Cystic Fibrosis Genetic Analysis Consortium was formed in November 1989 under the Auspices of the Cystic Fibrosis Foundation (USA). The objective of the Consortium is to facilitate rapid exchange of data on the identification of new mutations and on the relative population frequency for individual mutations. The Consortium currently consists of 90 laboratories in 26 countries.

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