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Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
Glanzmann, Brigitte; Möller, Marlo; Schoeman, Mardelle; Urban, Michael; van Helden, Paul D; Frigati, Lisa; Grewal, Ravnit; Pieters, Hermanus; Loos, Ben; Hoal, Eileen G; Glashoff, Richard H; Cornelissen, Helena; Rabie, Helena; Esser, Monika M; Kinnear, Craig J.
Affiliation
  • Glanzmann B; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • Möller M; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • Schoeman M; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • Urban M; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • van Helden PD; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • Frigati L; Division of Paediatric Infectious Diseases, Department of Paediatrics and Child Health, Tygerberg Children's Hospital, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
  • Grewal R; Division of Haematology, National Health Laboratory Services, Tygerberg Hospital, Cape Town, South Africa.
  • Pieters H; Division of Haematology, National Health Laboratory Services, Tygerberg Hospital, Cape Town, South Africa.
  • Loos B; Department of Physiological Sciences, University of Stellenbosch, Stellenbosch, South Africa.
  • Hoal EG; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
  • Glashoff RH; Immunology Unit, Division of Medical Microbiology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Hospital, Cape Town, South Africa.
  • Cornelissen H; Department of Haematopathology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Hospital, Cape Town, South Africa.
  • Rabie H; Division of Paediatric Infectious Diseases, Department of Paediatrics and Child Health, Tygerberg Children's Hospital, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
  • Esser MM; Immunology Unit, Division of Medical Microbiology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Hospital, Cape Town, South Africa.
  • Kinnear CJ; DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, P.O. Box 241, Cape Town, 8000, South Africa.
BMC Med Genet ; 21(1): 124, 2020 06 05.
Article in En | MEDLINE | ID: mdl-32503528
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wiskott-Aldrich Syndrome / Wiskott-Aldrich Syndrome Protein / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Country/Region as subject: Africa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: South Africa Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wiskott-Aldrich Syndrome / Wiskott-Aldrich Syndrome Protein / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Country/Region as subject: Africa Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: South Africa Country of publication: United kingdom