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Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A

✍ Scribed by Nikolic, Aleksandra; Radlovic, Nedeljko; Dinic, Jelena; Milosevic, Katarina; Radojkovic, Dragica


Book ID
121329546
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
311 KB
Volume
13
Category
Article
ISSN
1569-1993

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Missense mutation R1066C in the second t
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We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. The current age of the patients was higher in the R1066C/any mutation group (P < 0.01), as compared to the aF508/aF508 group. Poor values for lung ra