Výsledky vyhledávání - "Urszula Skrzypczak"

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

Autor: Andrzej Pogorzelski, Ewa Rutkiewicz, Ewa Ziętkiewicz, Michał Witt, Urszula Skrzypczak

Publikováno v: Journal of Applied Genetics. 48:85-88

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 theCFTR mutations that are most frequently found in the Polish population:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a69c73970c0091c5f975662841ce90a1
https://doi.org/10.1007/bf03194662

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Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

Autor: Barbara Nitka, Kinga Humińska, Ewa Ziętkiewicz, Ewa Rutkiewicz, Andrzej Pogorzelski, Zuzanna Bukowy, Hanna Przystałowska, Urszula Skrzypczak, Michal Witt, Katarzyna Voelkel

Publikováno v: Respiratory Research, Vol 11, Iss 1, p 174 (2010)
Respiratory Research

Background Mutations in the DNAI1 gene, encoding a component of outer dynein arms of the ciliary apparatus, are the second most important genetic cause of primary ciliary dyskinesia (PCD), the genetically heterogeneous recessive disorder with the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24996eae23fe238b391c92cc9eeccf9a
https://doi.org/10.1186/1465-9921-11-174

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