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Article: A novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa

TitleA novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africa
Authors
Naidoo, RJordaan, NChan, KWLe Roux, DMPienaar, SNuttall, JLau, YLEley, BS
Issue Date2011
PublisherSouth 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?
AbstractA 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 Identifierhttp://hdl.handle.net/10722/170459
ISSN
0256-9574
2023 Impact Factor: 1.5
2023 SCImago Journal Rankings: 0.469
ISI Accession Number ID
WOS:000296825600032
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorNaidoo, Ren_US
dc.contributor.authorJordaan, Nen_US
dc.contributor.authorChan, KWen_US
dc.contributor.authorLe Roux, DMen_US
dc.contributor.authorPienaar, Sen_US
dc.contributor.authorNuttall, Jen_US
dc.contributor.authorLau, YLen_US
dc.contributor.authorEley, BSen_US
dc.date.accessioned2012-10-30T06:09:07Z-
dc.date.available2012-10-30T06:09:07Z-
dc.date.issued2011en_US
dc.identifier.citationSouth African Medical Journal, 2011, v. 101 n. 10, p. 768-769en_US
dc.identifier.issn0256-9574en_US
dc.identifier.urihttp://hdl.handle.net/10722/170459-
dc.description.abstractA 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.languageengen_US
dc.publisherSouth 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.htmlen_US
dc.relation.ispartofSouth African Medical Journalen_US
dc.subject.meshAspergillus Fumigatus - Geneticsen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshGenetic Diseases, X-Linked - Geneticsen_US
dc.subject.meshGranulomatous Disease, Chronic - Genetics - Microbiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshIndel Mutationen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Glycoproteins - Geneticsen_US
dc.subject.meshNadph Oxidase - Geneticsen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRecurrenceen_US
dc.subject.meshSouth Africaen_US
dc.subject.meshTuberculosis, Pulmonary - Geneticsen_US
dc.titleA novel CYBB mutation with the first genetically confirmed case of chronic granulomatous disease in South Africaen_US
dc.typeArticleen_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid22272860-
dc.identifier.scopuseid_2-s2.0-80053296655en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80053296655&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume101en_US
dc.identifier.issue10en_US
dc.identifier.spage768en_US
dc.identifier.epage769en_US
dc.identifier.isiWOS:000296825600032-
dc.publisher.placeSouth Africaen_US
dc.identifier.scopusauthoridNaidoo, R=36477734200en_US
dc.identifier.scopusauthoridJordaan, N=53865259100en_US
dc.identifier.scopusauthoridChan, KW=8587755300en_US
dc.identifier.scopusauthoridle Roux, DM=16447959400en_US
dc.identifier.scopusauthoridPienaar, S=14324075600en_US
dc.identifier.scopusauthoridNuttall, J=7004880910en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.scopusauthoridEley, BS=7005721967en_US
dc.identifier.issnl0256-9574-

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