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Homozygous r117h patients - PowerPoint PPT Presentation

R117H Mutations: Genotype-Phenotype and its Presence in the NBS Panel

R117H Mutations: Genotype-Phenotype and its Presence in the NBS Panel. I. Bronsveld 1 , R.A. de Nooijer 1 , H.G.M. Arets 2 , F. Teding van Berkhout 1 , Y. de Rijke 3 , H.R. de Jonge 4. 1 Dept. of Pulmonology and 2 Dept. of Paediatrics, UMC Utrecht, The Netherlands; 3 Dept. of Clinical

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Homozygous r117h patients - PowerPoint PPT Presentation

R117H Mutations: Genotype-Phenotype and its Presence in the NBS Panel