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Volume 88
Issue 6
10.5603/ARM.a2020.0142
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Advances in Respiratory Medicine is published by MDPI from Volume 90 Issue 4 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Via Medica.
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Case Report

Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene

by
Paweł Zapolnik
1,* and
Beata Zapolnik
2
1
Students’ Scientific Association of Clinical Genetics, Department of Clinical Genetics, Medical College, University of Rzeszów, Rzeszów, Poland
2
Department of Allergology and Cystic Fibrosis, Clinical Regional Hospital No. 2 in Rzeszów, Rzeszów, Poland
*
Author to whom correspondence should be addressed.
Adv. Respir. Med. 2020, 88(6), 612-614; https://doi.org/10.5603/ARM.a2020.0142
Submission received: 2 May 2020 / Revised: 21 May 2020 / Accepted: 21 May 2020 / Published: 30 October 2020

Abstract

Cystic fibrosis is a monogenic disease caused by a mutation in the CFTR gene. The classic presentation of the disease includes chronic bronchopulmonary symptoms. However, abnormalities in this gene may also be manifested by other phenotypes, so-called CFTR-related disorders. This is a group of entities including disseminated bronchiectasis, congenital bilateral absence of vas deferens, and chronic pancreatitis. In this article, we present a family with a rare F1052V mutation and a polymorphic variant of IVS-5T+11TG. No classical form of the disease was observed in any of the persons affected by the above changes. Results of special investigations are also not typical, which hinders unequivocal diagnosis.
Keywords: cystic fibrosis; genes; mutation cystic fibrosis; genes; mutation

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MDPI and ACS Style

Zapolnik, P.; Zapolnik, B. Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene. Adv. Respir. Med. 2020, 88, 612-614. https://doi.org/10.5603/ARM.a2020.0142

AMA Style

Zapolnik P, Zapolnik B. Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene. Advances in Respiratory Medicine. 2020; 88(6):612-614. https://doi.org/10.5603/ARM.a2020.0142

Chicago/Turabian Style

Zapolnik, Paweł, and Beata Zapolnik. 2020. "Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene" Advances in Respiratory Medicine 88, no. 6: 612-614. https://doi.org/10.5603/ARM.a2020.0142

APA Style

Zapolnik, P., & Zapolnik, B. (2020). Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene. Advances in Respiratory Medicine, 88(6), 612-614. https://doi.org/10.5603/ARM.a2020.0142

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