Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jcf.2007.02.004
Title: Novel CFTR gene mutation in a patient with CBAVD
Authors: Goh, D.L.M. 
Zhou, Y.
Chong, S.S.
Ngiam, N.S.P. 
Goh, D.Y.T.
Keywords: Bronchiolitis obliterans organising pneumonia
Congenital bilateral absence of the vas deferens
Cystic fibrosis transmembrane conductance regulator gene
Meliodosis
Mutation
Issue Date: 2007
Source: Goh, D.L.M., Zhou, Y., Chong, S.S., Ngiam, N.S.P., Goh, D.Y.T. (2007). Novel CFTR gene mutation in a patient with CBAVD. Journal of Cystic Fibrosis 6 (6) : 423-425. ScholarBank@NUS Repository. https://doi.org/10.1016/j.jcf.2007.02.004
Abstract: We report a novel mutation detected in a 33 year old Chinese man with congenital bilateral absence of the vas deferens (CBAVD), a past history of pulmonary meliodosis infection and a past history of bronchiolitis obliterans organising pneumonia. A novel splice site mutation in intron 6b (1001 + 5 G → A) in the homozygous state was identified, and was predicted to lead to inefficient splicing. He was also homozygous at all intragenic and flanking polymorphic markers. Quantitative realtime PCR analysis showed that there were 2 copies of the CFTR gene present, ruling out the possibility of a deletion, and strongly suggesting the possibility of uniparental isodisomy involving at least a part of chromosome 7. © 2007 European Cystic Fibrosis Society.
Source Title: Journal of Cystic Fibrosis
URI: http://scholarbank.nus.edu.sg/handle/10635/25698
ISSN: 15691993
DOI: 10.1016/j.jcf.2007.02.004
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