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5. 814 Uniparental inheritance of junctional epidermolysis bullosa (JEB) through mutation of ITGA6 and trisomic rescue

17. T.P.5

18. G.P.106

19. 94 The effect of Pseudomonas aeruginosa infection on pulmonary function outcome in a cohort of patients with nonsense mutation cystic fibrosis

26. 63 The use of high resolution computerized tomography of the chest in evaluating the effect of ataluren in nonsense mutation cystic fibrosis (nmCF) lung disease

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