{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T10:10:55Z","timestamp":1657275055145},"reference-count":0,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T00:00:00Z","timestamp":1604016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Advances in Respiratory Medicine"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.5603\/arm.a2020.0142","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T12:27:53Z","timestamp":1609763273000},"page":"612-614","source":"Crossref","is-referenced-by-count":0,"title":["Cystic Fibrosis or Not? Familial Occurrence of a Rare Mutation in the CFTR Gene"],"prefix":"10.3390","volume":"88","author":[{"given":"Pawe\u0142","family":"Zapolnik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Zapolnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,10,30]]},"container-title":["Advances in Respiratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2543-6031\/88\/6\/612\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T09:34:46Z","timestamp":1657272886000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2543-6031\/88\/6\/612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,30]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["ARM.a2020.0142"],"URL":"https:\/\/doi.org\/10.5603\/arm.a2020.0142","relation":{},"ISSN":["2543-6031"],"issn-type":[{"value":"2543-6031","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,30]]}}}