Literature DB >> 23933162

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

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

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).
© 2013. Published by Elsevier B.V. on behalf of European Cystic Fibrosis Society. All rights reserved.

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Year:  2013        PMID： 23933162     DOI： 10.1016/j.jcf.2013.07.001

Source DB:  PubMed          Journal:  J Cyst Fibros        ISSN： 1569-1993            Impact factor:   5.482


  2 in total

1.  Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.

Authors:  Issa Siryani; Mohamed Jama; Nisreen Rumman; Hiyam Marzouqa; Moein Kannan; Elaine Lyon; Musa Hindiyeh
Journal:  PLoS One       Date:  2015-07-24       Impact factor: 3.240

2.  Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Authors:  Neluwa Liyanage Ruwan Indika; Dinesha Maduri Vidanapathirana; Hewa Warawitage Dilanthi; Grace Angeline Malarnangai Kularatnam; Nambage Dona Priyani Dhammika Chandrasiri; Eresha Jasinge
Journal:  BMC Med Genet       Date:  2019-05-24       Impact factor: 2.103
  2 in total

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