Article
Cystic fibrosis: the impact of analytical technology for genotype-phenotype studies.
Clinica chimica acta; international journal of clinical chemistry - 30 Jul 1993
Tümmler B, Dörk T, Kubesch P, Fislage R, Kälin N, Neumann T, Wulbrand U, Wulf B, Steinkamp G, von der Hardt H
Abstract excerpt
The generalized exocrinopathy cystic fibrosis (CF) is the most common severe genetic disease in Caucasian populations. A panel of more than 700 chromosomes from German and Turkish CF patients was screened for disease-causing mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene by chemical cleavage of mismatch, single strand conformation polymorphism, restriction analysis and direct...
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