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- Scopus: eid_2-s2.0-80053296655
- PMID: 22272860
- WOS: WOS:000296825600032
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Article: A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa
Title | A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa |
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Authors | |
Issue Date | 2011 |
Publisher | South African Medical Association. The Journal's web site is located at http://www.inasp.info/ajol/journals/sam/about.html; http://www.journals.co.za/ej/ejour_m_sajp.html |
Citation | South African Medical Journal, 2011, v. 101 n. 10, p. 768-769 How to Cite? |
Abstract | A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD. |
Persistent Identifier | http://hdl.handle.net/10722/170459 |
ISSN | 2023 Impact Factor: 1.5 2023 SCImago Journal Rankings: 0.469 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Naidoo, R | en_US |
dc.contributor.author | Jordaan, N | en_US |
dc.contributor.author | Chan, KW | en_US |
dc.contributor.author | Le Roux, DM | en_US |
dc.contributor.author | Pienaar, S | en_US |
dc.contributor.author | Nuttall, J | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.contributor.author | Eley, BS | en_US |
dc.date.accessioned | 2012-10-30T06:09:07Z | - |
dc.date.available | 2012-10-30T06:09:07Z | - |
dc.date.issued | 2011 | en_US |
dc.identifier.citation | South African Medical Journal, 2011, v. 101 n. 10, p. 768-769 | en_US |
dc.identifier.issn | 0256-9574 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170459 | - |
dc.description.abstract | A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene - the first South African report of genetically confirmed CGD. | en_US |
dc.language | eng | en_US |
dc.publisher | South African Medical Association. The Journal's web site is located at http://www.inasp.info/ajol/journals/sam/about.html; http://www.journals.co.za/ej/ejour_m_sajp.html | en_US |
dc.relation.ispartof | South African Medical Journal | en_US |
dc.subject.mesh | Aspergillus Fumigatus - Genetics | en_US |
dc.subject.mesh | Child, Preschool | en_US |
dc.subject.mesh | Genetic Diseases, X-Linked - Genetics | en_US |
dc.subject.mesh | Granulomatous Disease, Chronic - Genetics - Microbiology | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Indel Mutation | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Membrane Glycoproteins - Genetics | en_US |
dc.subject.mesh | Nadph Oxidase - Genetics | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Recurrence | en_US |
dc.subject.mesh | South Africa | en_US |
dc.subject.mesh | Tuberculosis, Pulmonary - Genetics | en_US |
dc.title | A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lau, YL:lauylung@hkucc.hku.hk | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.pmid | 22272860 | - |
dc.identifier.scopus | eid_2-s2.0-80053296655 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-80053296655&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 101 | en_US |
dc.identifier.issue | 10 | en_US |
dc.identifier.spage | 768 | en_US |
dc.identifier.epage | 769 | en_US |
dc.identifier.isi | WOS:000296825600032 | - |
dc.publisher.place | South Africa | en_US |
dc.identifier.scopusauthorid | Naidoo, R=36477734200 | en_US |
dc.identifier.scopusauthorid | Jordaan, N=53865259100 | en_US |
dc.identifier.scopusauthorid | Chan, KW=8587755300 | en_US |
dc.identifier.scopusauthorid | le Roux, DM=16447959400 | en_US |
dc.identifier.scopusauthorid | Pienaar, S=14324075600 | en_US |
dc.identifier.scopusauthorid | Nuttall, J=7004880910 | en_US |
dc.identifier.scopusauthorid | Lau, YL=7201403380 | en_US |
dc.identifier.scopusauthorid | Eley, BS=7005721967 | en_US |
dc.identifier.issnl | 0256-9574 | - |