Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

Affiliations

• ¹ Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
• ² Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
• ³ School of Biological Sciences, University of Adelaide, SA 5005, Australia.
• ⁴ Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, Australia.
• ⁵ ACRF Department of Cancer Biology and Therapeutics, John Curtin School of Medical Research, The Australian National University, Acton, ACT, Australia.
• ⁶ Oncogenic Signalling and Growth Control Program, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
• ⁷ School of Biomedical Sciences, University of Queensland, St. Lucia, Australia.
• ⁸ Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia.
• ⁹ Department of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria, Australia.
• ¹⁰ Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria, Australia.
• ¹¹ School of Medicine, University of Adelaide, Australia.
• ¹² Division of Haematology, SA Pathology, Adelaide, Australia.
• ¹³ School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Australia.
• ¹⁴ South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
• ¹⁵ Department of Haematology, SA Pathology, Women's and Children's Hospital, North Adelaide, Australia.
• ¹⁶ Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia hamish.scott@sa.gov.au.