Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.

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Published in BMC Med Genet on March 14, 2017

Authors

Craig Kinnear1, Brigitte Glanzmann2, Eric Banda2, Nikola Schlechter2, Glenda Durrheim2, Annika Neethling2, Etienne Nel3, Mardelle Schoeman2, Glynis Johnson2, Paul D van Helden2, Eileen G Hoal2, Monika Esser4, Michael Urban2, Marlo Möller2

Author Affiliations

1: SA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical 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. gkin@sun.ac.za.
2: SA MRC Centre for Tuberculosis Research, DST/NRF Centre of Excellence for Biomedical 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.
3: Department of Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
4: National Health Laboratory Service, Immunology Unit, Division of Medical Microbiology, Department of Pathology, Tygerberg Hospital, Stellenbosch University, Cape Town, South Africa.

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