文献
J-GLOBAL ID:202102279707681568
整理番号:21A0093062
非定型Wiskott-Aldrich症候群を呈する南アフリカ患者における新規WAS変異の同定:症例報告【JST・京大機械翻訳】
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
著者 (15件):
Glanzmann Brigitte
(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, Cape Town, South Africa)
,
Moller Marlo
(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, Cape Town, South Africa)
,
Schoeman Mardelle
(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, Cape Town, South Africa)
,
Urban Michael
(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, Cape Town, South Africa)
,
Helden Paul D. van
(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, Cape Town, South Africa)
,
Frigati Lisa
(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 Ravnit
(Division of Haematology, National Health Laboratory Services, Tygerberg Hospital, Cape Town, South Africa)
,
Pieters Hermanus
(Division of Haematology, National Health Laboratory Services, Tygerberg Hospital, Cape Town, South Africa)
,
Loos Ben
(Department of Physiological Sciences, University of Stellenbosch, Stellenbosch, South Africa)
,
Hoal Eileen G.
(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, Cape Town, South Africa)
,
Glashoff Richard H.
(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 Helena
(Department of Haematopathology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Hospital, Cape Town, South Africa)
,
Rabie Helena
(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 Monika M.
(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 Craig J.
(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, Cape Town, South Africa)
資料名:
BMC Medical Genetics (Web)
(BMC Medical Genetics (Web))
巻:
21
号:
1
ページ:
1-8
発行年:
2020年
JST資料番号:
U7307A
ISSN:
1471-2350
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
イギリス (GBR)
言語:
英語 (EN)