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

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

doi:10.1016/j.jcf.2013.07.001

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

J Cyst Fibros. 2014 Jan;13(1):111-3. doi: 10.1016/j.jcf.2013.07.001. Epub 2013 Aug 8.

Authors

Aleksandra Nikolic¹, Nedeljko Radlovic², Jelena Dinic³, Katarina Milosevic², Dragica Radojkovic³

Affiliations

¹ Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia. Electronic address: [email protected].
² University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia.
³ Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444A, 11010 Belgrade, Serbia.

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

Abstract

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).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cystic Fibrosis / diagnosis*
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Genotype
Homozygote
Humans
Male
Phenotype
Point Mutation*
Severity of Illness Index*
Young Adult

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator