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Article

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

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2014

Nikolic Aleksandra, Radlovic Nedeljko, Dinic Jelena, Milosevic Katarina, Radojkovic Dragica

Abstract excerpt

We present a case of a 19-year old male with uncommon initial clinical cystic fibrosis (CF) presentation and a rare CFTR genotype, homozygote for c.1393-1G>A mutation (legacy name 1525-1G>A).

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Source

Identifiers

PMID: 23933162
DOI: 10.1016/j.jcf.2013.07.001

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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