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IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh, Arunabha; Mercer, Jean; Mackinnon, Sabrina; Yue, Wyatt W; Church, Heather; Beesley, Clare E; Broomfield, Alex; Jones, Simon A; Tylee, Karen.
Affiliation
  • Ghosh A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Mercer J; School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Mackinnon S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK.
  • Church H; Structural Genomics Consortium, Nuffield Department of Medicine, University of Oxford, London, UK.
  • Beesley CE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Broomfield A; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Jones SA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
  • Tylee K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
Hum Mutat ; 38(11): 1555-1568, 2017 11.
Article in En | MEDLINE | ID: mdl-28752568
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Full text: 1 Database: MEDLINE Main subject: Mucopolysaccharidosis I / Genetic Association Studies / Iduronidase / Mutation Type of study: Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Year: 2017 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Mucopolysaccharidosis I / Genetic Association Studies / Iduronidase / Mutation Type of study: Prognostic_studies Limits: Humans Country/Region as subject: Europa Language: En Year: 2017 Type: Article