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Bi-allelic CLPB mutations cause cataract,renal cysts,nephrocalcinosis and 3-methylglutaconic aciduria,a novel disorder of mitochondrial protein disaggregation |
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| Authors: | Marta Kanabus Rojeen Shahni José W. Saldanha Elaine Murphy Vincent Plagnol William Van’t Hoff Simon Heales Shamima Rahman |
| Affiliation: | 1. Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK 2. Division of Mathematical Biology, National Institute for Medical Research, Mill Hill, London, NW7 1AA, UK 3. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK 4. UCL Genetics Institute, London, UK 5. Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK 6. Clinical Chemistry Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK 7. Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust, London, WC1N 3JH, UK |
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