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Number of results
2007 | 48 | 3 | 85-88

Article title

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

Title variants

Languages of publication

EN

Abstracts

EN
We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.

Discipline

Year

Volume

48

Issue

3

Pages

85-88

Physical description

Contributors

author
author
author

References

Document Type

ARTICLE

Publication order reference

E. Zietkiewicz, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60?479 Poznan, Poland

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-2c3e2f99-f54c-3fce-9182-8b880bf7189d
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