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

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference23 articles.

1. Afzelius BA, Mossberg B, 1995. Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed., McGraw-Hill, New York: 3943–3954.

2. Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, et al. 1993. Mild cystic fibrosis and normal or borderline sweat test in patients with 3849 + 10 kb C>T mutation. Lancet 342: 25–26.

3. Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring G, Sail GD, et al. 2000. Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. Eur J Hum Genet 8: 109–118.

4. Bozkowa K, Golebiowska K, Rutkowski J, Nowakowska A, Holzer J, 1971. Epidemiology of mucoviscidosis in children in Poland. Ped Pol 46: 677.

5. Cystic Fibrosis Consortium. Cystic Fibrosis Mutation database [Internet; last updated Jul 2006]. Available from: http://genet.sickkids.on.ca/cftr

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