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Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies

✍ Scribed by Burkhard Tümmler; Thilo Dörk; Peter Kubesch; Rainer Fislage; Nanette Kälin; Thomas Neumann; Ulrich Wulbrand; Brigitte Wulf; Gratiana Steinkamp; Horst von der Hardt

Book ID
115827866
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
408 KB
Volume
217
Category
Article
ISSN
0009-8981

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Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with