Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.jcf.2007.02.004
DC FieldValue
dc.titleNovel CFTR gene mutation in a patient with CBAVD
dc.contributor.authorGoh, D.L.M.
dc.contributor.authorZhou, Y.
dc.contributor.authorChong, S.S.
dc.contributor.authorNgiam, N.S.P.
dc.contributor.authorGoh, D.Y.T.
dc.date.accessioned2011-08-16T07:43:25Z
dc.date.available2011-08-16T07:43:25Z
dc.date.issued2007
dc.identifier.citationGoh, 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
dc.identifier.issn15691993
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/25698
dc.description.abstractWe 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.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.jcf.2007.02.004
dc.sourceScopus
dc.subjectBronchiolitis obliterans organising pneumonia
dc.subjectCongenital bilateral absence of the vas deferens
dc.subjectCystic fibrosis transmembrane conductance regulator gene
dc.subjectMeliodosis
dc.subjectMutation
dc.typeArticle
dc.contributor.departmentPAEDIATRICS
dc.description.doi10.1016/j.jcf.2007.02.004
dc.description.sourcetitleJournal of Cystic Fibrosis
dc.description.volume6
dc.description.issue6
dc.description.page423-425
dc.identifier.isiut000251522900010
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