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  • Title: [A study evaluating the correlation between the phenotype and genotype among 65 cystic fibrosis patients].
    Author: Nowakowska A, Bal J, Obersztyn E, Sands D, Maciejko D, Mazurczak T.
    Journal: Pediatr Pol; 1995 Aug; 70(8):633-8. PubMed ID: 8668363.
    Abstract:
    Among 65 CF diagnosed patients with both CFTR gene mutations known genotype-phenotype studies were performed. Correlation between pancreatic insufficiency and so called "severe mutations" was found. Respiratory tract symptoms do not seem to depend on one specific mutation as well as meconium ileus is not only limited to the group of patients with delta F508/delta F508 genotype. Some other genotype - clinical features correlation in CF patients are discussed.
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