Cystic fibrosis in a Sri Lankan infant, confirmed by genotyping: implications for future diagnosis and service provision
By: G.A.M. Kularatnam, D. Warawita, S. Jayasena, S. Nadarajah, E. Jasinge, D. Mendis, H. Kennedy, C. Florkowski and P. George
Open Access
|Jul 2015Abstract
Cystic fibrosis (CF) is an autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane regulator gene (CFTR) on chromosome 7(7q31.2). The diagnosis is usually made clinically, supported by raised sweat chloride, although genotyping provides definitive confirmation and enables genetic counselling.
Journal of the Postgraduate Institute of Medicine 2015;2:E17:1-3
DOI: https://doi.org/10.4038/jpgim.8046 | Journal eISSN: 2362-0323
Language: English
Published on: Jul 27, 2015
Published by: Postgraduate Institute of Medicine University of Colombo
In partnership with: Paradigm Publishing Services
Keywords:
© 2015 G.A.M. Kularatnam, D. Warawita, S. Jayasena, S. Nadarajah, E. Jasinge, D. Mendis, H. Kennedy, C. Florkowski, P. George, published by Postgraduate Institute of Medicine University of Colombo
This work is licensed under the Creative Commons License.