• Media type: E-Article
  • Title: Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
  • Contributor: Katja, Kloth; Inga, Vater; Ramona, Lindschau; Rau, Isabella; Almuth, Caliebe; Maria, Muschol Nicole
  • imprint: Elsevier BV, 2020
  • Published in: Molecular Genetics and Metabolism Reports
  • Language: English
  • DOI: 10.1016/j.ymgmr.2020.100660
  • ISSN: 2214-4269
  • Keywords: Endocrinology ; Genetics ; Molecular Biology
  • Origination:
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  • Access State: Open Access